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Section1 -

rthopedic
Problems

Growth patterns and development in children are often unique

to the individual child and therefore defining normal has potential ramifications. Statistically,normal is defined as95%" of a population that falls within 2 standard deviations of the mean from
any given measurement. The challenge for the orthopedic surgeon
caring for children is to understand which deviations from
normal are likely to result in impairment of function, progressive
deformity, or premature degenerative arthritis and pain.
Terminologies to describe some common deviations from
normal are enumerated in Table 571-1
Congenital anomalies can be categorized into:

Endochondral ossification, in which mesenchymal cells condense

and undergo chondrogenesis to form cartilage that matures and
hypertrophies, becomes calcified, and is then replaced by bone.
Most bones in the axial and appendicular skeleton are formed
in this way.
Intramembranous ossification, in which osteoblasts are formed
by direct differentiation of mesenchymal cells with no cartilage
pie.,,rsot or model. Flat bones of the skull and clavicle are
formed in this way.
Centers of ossification:

Primary centers of ossification: At the beginning of the fetal

period the chondrocytes in the midshaft of long bones from the
primary centers, growth from which eventually lengthens the
bone.
Secondary centers of ossification: These appear in the chondroepiphysis and mostly aPPear postnatally. They direct the
a. Productionprcblems:Theseindudeabnormalitiescausedbymalformation,dysplasia,ordhformation of bone throughout growth'
ruption
thatwillnotspontaneously
resolve.
in
bymechanical
ousesincluding
b. Pa*agingproblems:
Iheseinclude
deformations
caused
andmolding
andusually
resolve
withtime.
uteropositioning
The ossification centers that are typically present at term birth
are the distal femur, proximal tibia, calcaneus, and talus.
Typical long bones are divided into:
lN UTER0POS|T|0N|NG.In the newborn, the imprint of the in
utero position may be evident and confused with an abnormality. In utero positioning produces temporary joint and muscle
Physis, which is the growth plate located at the-end of bone
contractures and affects the torsional alignment of the long
Epiphysis, which is typically the secondary ossification center
bones, especially those of the lower extremities. Normal full-term
Meiaphysis, which is the bone adjacent to the physis on the side
newborns can have up to 20-30-degree hip and knee flexion conaway from the joint
tractures. These tend to resolve by 4-6 mo of age. The newborn
Diaphysis, which is the central Part or shaft of long bones
hip externally rotates in extension up to 80-90 degrees and has
limited internal rotation to =0-10 degrees. The lower Ieg
frequently has inward rotation (internal tibial torsion), and the
feet are supinated from their medial borders being wrapped
against the posterolateral aspect of the opposite thigh. The top
leg in the in utero position may show more changes than the
bottom leg. The face may also be distorted, whereas the spine
and upper extremities are less affected by the in utero position.
The effects of in utero positioning, therefore, are physiologic
in origin but may produce parental concerns. The child may be
34 yr old before the effects of the in utero position completely
resolve.

AT'ID
DEVETOPMENT
GROWTH
Consideration of growth and development helps to formulate
treatment strategies designed to preserve or restore normal
growth potential. Growth is not a constant feature and is subiect
to many variables including genetics, nutrition, general health,
endocrine status, mechanical forces and physiological age. The
application of forces to the growing skeleton can improve
or worsen deformities in children Growth also varies between
2 anatomic regions and even between 2 bones of the same
reglon.
Bone formation or ossification occurs in 2 different ways:

chondral ossification.

ANDDEVETOPMENTAL
GROWTH
IMPORTANT
MITESTONES
Some important musculoskeletal growth considerations are summarized \nTable 677-2,

2772r PARTXXXI r BoneandJointDisorders

IEfliltmt06Y
[oosniul
Deformation
Deformity
Developmental
Disrupilon
Dysplasia
Malformation

DESMIPNON
Anomaly
thatisappaent
atbirth
Anormally
formed
slructure
thatispushed
outofshape
bymerhanical
force
partaltered
Abody
insha6fromnormal,
oubide
thenormal
ange
Adeviation
that0c(u6
oyer
time;
onethatmaynotbepreseilt
0rapparcnt
at
birth
Astructure
undergoing
normal
developmem
thatstops
develolring
orisdestroyed
orremoved
Atiisue
thatisabnormal
orwrongly
con$ructed
A$ructure
thatiswl'0ngly
built;failurc
ofembrplogit
developmem
or
diffuentiation
resulting
inabnormal
0rmissing
structures

GROWTH
PATTERNS
INUPPER
ANDLOWER
EXTREMITIES
The upper exrremity grows longirudinally primarily from physes
away from the elbow, with the proximal humeral physis and the
distal radial and ulnar physescontributing a greatei amounr than
the physes close to the elbow. This is opposite ro the lower
extremity growth pattern in which most of the longitudinal
growth occurs around the knee, in the distal femoral-and the
proximal tibial physes (Fig. 671-1).

MATURATION
OFGAIT
Central nervous system maturation contributes significantly to
the development of gait. In the beginning of ambulation, the child

COMPLETE
LIMB

LIMB
SEGMENT

COMPLETE
LIMB

cm/yl
0.8 (0 8)

usually has a wide-based gait with hyperflexion of hips and knees,

no reciprocal arm swing, and an initial contact with heel. By the
a9e of 2 yr, the wide gait diminishes, reciprocal arm swing begins,
and the initial contact is with the heel with increased step length
and velocity. Adult kinematic patrerns usually start developing by
3 yr and the rime-distance parameters reach adult values by
=7 yr, with development of a fully mature gait pattern.

Ballock Rl O'Keefe RJ: The biology of the growth plate. J Bone Joint Surg
Am 2003;85:715-726.
Davids JR: Normal gait and assessmentof gait disorders. In Morrissy R, Weinstein S (editors): Louell and Winter's Pediatric Orthopedics,5th ed. Philadelphia, Lippincott Williams & \ifilkins, 2001, pp 131,-1,56
Dimeglio A: Growth in pediatric orthopedics. In Morrissy R, Weinstein S
(editors):Louell and Winter's Pediatric Orthopedics,5th ed. Philadelphia,
Lippincott Villiams & \0ilkins, 2001, pp 33-62.
Frick SL: Normal growth and development in pediatric orthopedics. In
Dormans JP (editor): Pediatric Orthopedics: Core Knouledge in Orthopedlcs. Philadelphia,Mosby, 2005, pp 1,-1,4.

LIMB
SEGMENT

cmlyl
1.04

0.26
O.22Ulna
0.25Radius

--rw+.2(.4\
^cor'rsrNeo

F;
lrav"

Abnormal
$ature
ianbeasessed
ar"proportionate"r
(lower
0fsinrnq
height
withsubischial
herqht
limbg
Normally
thearmspan
isalmost
equal
tostanding
height
Thehead
h disproportionately
large
a binhandratioofhead
herghr
r0totalheight
isapproximately
(hanges
1 : 4 atbirth,whi(h
t0 1 : 75 atskeletal
maturity.
Lower
extremities
a(count
forab0ut
15%0fheight
atbirthand30%atskeletal
maturity.
Iherateofheight
andgrowth
increase
isnotconstant
andvaries
withgrowth
spurts
Byage5 y1,
birthheight
usually
doubles
andthechild
isapproximately
60%ofadult
height
Thechild
is
puberty,the
about
80%offinalheight
at9 yrDuring
standinq
heiqhr
increases
byapproximarely
1 cm
perm0ntn
Bone
ageh more
rmportant
thanchr0nologi(al
growth
potential,
ageindetermining
futurc

_gC

o.e(1.1)f'AVERAGE
0.75 Radius
0.9 Ulna

0.7(0.8)

Figure 671-1. The contribution (%) of each

physis to the overall length of the extremities.
(From Morrissy R, lfeinstein S [edftors]: Louell
and Winter's Pediatric Orthopedics, Sth ed.
Philadelphia, Lippincott rVilliams & I(ilkins,
2001..1

o11hsQ6il{r 2773
chapter6T2r Evaluation
Ogden J: Anatomy and physiology of skeletal development.In Catterall A
(editorl: Skeletal lnjury in the Children,3rd ed. New York, Springer-Verlag,
2000, pp 1.-37.
Song KM, Little DG: Peak height velocity as a maturity indicator for males
with idiopathic scoliosis.I Pediatr Orthop 2000;20:286-288.
Westh RN, MenelausMB: A simple calculationfor the timing of the epiphyseal arrest.J Bone Joint Surg Br 1981i63:117-11.9.

A detailed history and thorough physical examination are invaluable in the evaluation of a child with an orthopedic problem.
There may be many participants providing information regarding the child including parents, grandparents, guardian, siblings,
and coaches; information obtained can be very important, especially in younger children and infants. Depending on the nature
and severity of problem, appropriate radiographic imaging and,
occasionallt laboratory testing may be necessary.
HIST0RY.A comprehensive history should include details about
the prenatal, perinatal, and postnatal history. Prenatal history
should include maternal health issuesincluding smoking, prenatal vitamins, illicit drug or narcotic use, alcohol consumption,
diabetes,rubella, and sexually transmitted infections. The child's
prenatal and perinatal history should include information about
the length of pregnancy, prematurity, length of labor, type of
labor (induced or spontaneous), presentation of fetus, evidence
of any fetal distress at delivery, requirements of oxygen following the delivery, birth length and weight, Apgar score, muscle
tone at birth, feeding history, and period of hospitalization. In
older infants and young children, evaluation of the presenceand
delay of developmental milestones for posture, locomotion, dexterity, social activities, and speechis important. The medical and
surgical history should include any previous procedures and significant medical conditions, especially in patients with chronic
symptoms. Specific orthopedic questions should focus on joint,
muscular, appendicular, or axial skeleton complaints. Information regarding pain or other symptoms in any of these areas
should be appropriately elicited (Table 572-11.The family history

t0be(o0perative
andaremorelikely
secute
theyfeelmore
andduringtheexaminati0n
moves
aboutin theroombef0re
h0wthepatient
t0inspect
It isimp0rtant
glitpltternshould
aisobechecked.
maneuvers,Ealanre,pltture,lnd
various
aswellasduring
(afi-aulait
spots,
hairypatches,
forskinrashes,
inspe(i0n
indude
findings
should
exoninotnn
1enerql
serious
u0derlying
thatcanindicate
midline
defects
ofspinal
evidence
cysts,
tuftofhair,or
dimples,
problem
review
andneed
benoted
pall0r,
deficiencies,should
andnutritional
slgns
ofcachexia,
induding
6enuol
bodyhobttus,
trunk
0rappendicular
deformities,
axral
spinal
asymmetry
anyobvious
t0note
Itisimp0rtant
torwordbendingteniswluablein
decompensalron,andevidenceofmuxlespasm0rcontratturcs
ofthes0ine.
dndmovement
dsynmetry
dssessing
andreflex
Motor,
sensoty,
h neurologk
uominotion
alhorouq
anddocument
lt isessential
t0perform
andrecotded
sh0uld
beperf0rmed
testing
should
berecorded
aswellasnusrleatrophy
in limblengths
Anydisoeponcks

. Iherangofmotion0falljoints,theirstabilit|,andanvelidencEofhlpedaxity,periphe
should
alrobenoted'in
allcass':'
andlymphadenop-athy

may give clues to possible genetic disorders such as congenital

syndromes, muscular dystrophS skeletal dysplasias, and other
disorders affecting the musculoskeletal system. It also may play
a role in expectations of the child's future development.
PHYSICALEXAMINATI0N.The orthopedic physical examination
must include a thorough examination of the musculoskeletal
system as well as a comprehensive neurologic examination. The
examination must include inspection, palpation, and evaluation

system includes four parts: inspection' palpation, assessment

of joint range of motion, and gait assessmentin ambulatory
children.
Initial examination of the child begins with inspecINSPECTION.
tion. The clinician should use the guidelines listed in Table 6722 during inspection.
N. Palpation of involved region should include assess-

painislocalized
area
Whether
toa particular
segment
orinvolves
a larger
locotionr
ocal temperature and warmth, tenderness,existence of
'10
0na painscale
0f1t0
,nteffify.'Usually
a swelling or mass, evidence of tightness, spasticiry or contrac-Quolity
trrre, bone or ioint deformity and evaluation of anatomic axis of
i Tumorpainrsoftenunrelenting,progressive,andoftenpresentduringthenight
limb, and finally assessmentof limb lengths.
particularly
is
suggestive
ofosteord
osteoma
ri Pain
atnight
Contractures are a loss of mobility of a ioint from congenital
iii Pain
ininflammation
andinfectron
isusually
continuous
painandhistory
of
Acute
andrelated
tospecific
trauma
0rwa5it insidious?):
onret(wasit acute
or acquired causes and are caused by periarticular soft-tissue
Irauma
aremorecommonly
asociated
withfraclures
fibrosis or involvement of musclescrossing the ioint' Congenital
lasting
tor
lasting
f0rminutes,
orlasting
forhou60rdaysPain
Whether
transient,0nly
5 Duration;
contractures are common in arthrogryposis (see chapter 681).
problem
0fa5etious
underlying
lonqer
than3-4 wkismoresuggestive
Spasticity is an abnormal increasein tone associatedwith hyperin(rea5ing,
Whether
stati(,
0rde(reasing
6. Progre$:
reflexia and is common in cerebral palsy.
radiating
toupper
orlower
extremities
0r(0mplaints
ofnumbness,tingling,0t
7 nodiqtion:Pain
Deformity of the bone or joint is an abnormal fixed shape or
weaknes
require
appropriate
work-up
oranyparticular
toanyactivrties
such
asswimming
ordiving
o. Aggrcvating
focto&:Relationship
p0srtr0n
suthas
medication?
[onditlons
thepaingetrelieved
byrest,
heat,andior
9 Alleviotingfocton:Does
pulls,ot
are
ovetuse
disease,
inflammatory
spondyloarthtopathy,muscle
spondylolysis,5cheuermann
imoroved
bvbedrest
asso(ialed
withpain
Gnitqndposturc:Disturbances
ness,or pain on motion. Depending on the plane of deformitn it

2774I PARTXXXIr BoneandJointDisorders

can be defined as varus (away from midline) or valgus (apex
toward midline) (coronal plane), or recurvatum or flexion deformity (sagittal plane)" ln the axial skeleton,especiallythe sprne,
deformity can be defined as scoliosis,kyphosis, hvperlordosis,
and kyphoscoliosis.
RANGE0F MOTION.lt is importanr ro assessand record the a*ive
and passiverangeof motion rvhile evaluatingrhe joint. The range
should a]wars be cornpared ro rhe opposite side rhat poinrs
toward rhe normal rarLge.C)bjecriveevaluarionshould be ideally
done wirh a goniometr:rand recorded.
I)ifferent terminologresfor directior-rof joinr morion are our.
lrned:
Abduction: Arvav fronr rhe midline.
Adduction: Ioward the midline.
Flexion: Movemenr of bending from the srarring position.
Extension:Movemenr from bending ro rhe srarting position.
Supination: Rotaring the foreirrm to face rhe palm upward.
Pronation: Roraring rhe forearm to face rhe palm downward.
Inversion: Turninq the hindfoot inward.
Eversion:Turning rhe hindfoor outward.
Internal rotation: furning inward tow.ard the axis of rhe body.
External rotation: furning clutward awav from rhe axis of the
bodv.

LIMPING
A thorough history and clinical examination are the first steps
toward early identificationof the underlying problem causing a
limp. I-imping can be considered as either painful (antalgic) or
painless, with the differential diagnosis ranging from benign co
serious causes(septic hip, tumor). In a painful gait, the stance
phase is shortenedas the child decreasesthe time spent on the
painful extremity. In a painlessgait, which is indicative of underlying proximal muscle weakness or hip instability, rhe srance
phaseis equal betweenthe involved and uninvolvedsides,but the
child will lean or shift the center of gravity over rhe involved
extremity for balance.If the disorder is bilareral, it produces a
waddling gait.
Disorders most commonly responsiblefor an abnormal garr
generallyvary based on the age of the patient. The differential
diagnosisof limping varies basedon age group (Tat:,le672-31 or
mechanism(Table672-4). Neurologic disorders,especiallyspinal
cord or peripheralnerve disorders,can also produce limping and
difficulty walking. Antaigic gait is predominantly a result of
trauma, infection, or pathologic fracture. Trendelenburggait is
generally due to congenital, developmental,or muscular disorders.Limping in somecasesmay also be due to nonskeletalcauses
such as testiculartorsion, inguinal hernia, and appendicitis.

BACKPAIN
( . h i l d r e nt y p i c a l l yb e g i nw a l k i n g b e t w e e n1 2
ambulirrion is characterizedby short stride
ence, and slow velocitv with a wide-based

6 7I ) .
Someimportanr rerrnsusedtn understandinggait cycleinclude:
Cadence:The nurnber of srepstaken per rninute.
Step length: The disrancecovered during one step.
Step period: The time rneasuredfrom an evenr in one foot to the
same event in the Oppositefoot.
Stride period: The rime from heel strike of one foor ro rhe next
heel strike of the same foot.
Stride length: l'he total distancecovered from one heel strike to
the same-foorheel strike.
Neurologic maruration is necessaryfor rhe developmentof gait
and the normal progressronof developmenral milestones. A
c h i l d ' sg a i t c h a n g e sw i t h n e u r o l o g j cm l t u i a r i o n . I n f a n t sn o r m a l l y
w a l k w i t h g r e a r e rh i p a n d k r r c ef l e x i o n ,t l e x e da r m s ,a n d a w i d e r
base of gait than older children. As the neurologic sysremcontinues ro develop in the cephalocaudaldirection, the efficiency
and smoothnessof gait increase.The gait characrerisricsof a
7 y r o l d c h i l d a r c s i m r l l r r o r h o s eo f a n a d u l r .I n c i r c u m s t a n c e s
when the ner.rrologic
systemis abnormal (cerebralpalsy),the delicate control of gait is disrurbed, leading to parhologic reflexes
and abnormal movenrenrs.
Deviations from normal gait occLrrin a variety of orthopedic
conditions. Disorders that result in muscle r.r,eakness
(e.g.,spina
bifida, muscular d;-strophv),spasticity (e.g., cerebral pilryj,
".
contractures(e.g., arthrogrvposis)lead to abnormalitiesin gait.
Other causesof gait disrurbancesinclude limp, pain, rorsional
variations (in-toeing and our-toeing),toe walking, joint abnormalities, and leg-lengthdiscrepancy.

In comparison to adults, the work-up for back pain in children

is extensiveand aggressiveat a much earlier stage in the evolution of symptoms. Children frequenrly have a specific skeletal
pathology as the causeof back pain. In the pediatric population,
a history of persistentback pain should be taken seriouslyand

AGt
(1*l n)
Toddler

AtlTAl.Gl(

Infection
Septi(
anhritis
Hip
l(nee
Osteomyelitis
Di5kitis
Occult
trauma
Ioddle/s
fracture
Neoplasia
(hildhood
(4-10yr)
lnfe(ion
Septi(
afthritis
Hip
Mee
O$eomyelitit
Diskitis
Ifansrent
synovitit
hip
LtPD
Ta6al
coalitlon
Rheumatologtc
disorder
JRA
Trauma
Neoplasia
Adolescence(1i+yr)s(FE
Rheumatoiogic
disorder
]RA
Trauma:
fracture,
overuse
Tarsal
ioalition
Neoplasia

TEG-TEI.IGTH
TRTNOEI.TI{BURGDISCRTPANCY
(DDH)
Hip
dBloration
Neuromuscular
disease
pahy
[erebral
Poliomyelitis

(DDH) +
Hip
dislootion
Neuromuscular
disease
pahy
[erebral
Poliomyelitis

DDH,
developmental
dysplasia
ofthehip;lRA,juvenile
rheumatoid
anhrlt6,
LIPD
Legg-talvd-perths
diseas;stFE,
slipped
capital
femora
epiphyes;-,absent+,pres..nl
komThomps0n
GH:6altdisturbantes
lnKliegman
Rl\4
DilgnasislndfhilIpy.Phlladel
ledi](i)Pru(tkllstt1tegles0fPedialk
phia,
WB5aurde6,
1996,
ppi57-778

r Evaluation
oftheChildI 2775
Chapter6T2

AT'ITAtGI(
ONGENITAI.
Tarsal
coalition
AQUIRED
LCPD
StFE
TRAUMA
5prains,
strains,
contusions
Fractures
0ccult
fracture
Toddler's
Abuse

Grade 0: No muscular contraction detected.

Grade l: Trace contraction, barely detectableclinically.
IRENDETTNEURG Grade 2: Active movement with gravity eliminated'
3: Active movement agalnst gravlty.
DEVET()PMENTAT Cirade
Active movemenr againstgravity and some resistance.
4:
Grade
DDH
Leg-lenqth
discrepancy Grade 5: Actrve movement against full resistance
NIUROMU5OTAR
Plain radiographsare the first step
ASSESSMENT.
HADI0GRAPHIC
plasy
[erebral
Poliomyelitis
in evaluation of most muscuioskeletal disorders. Adlanced
imaging includesspecialproceduressuch as nuclear bone scans,
ultrasonography,CT, MRI, and positron emissiot-ttomography
(PUT).

NT()PI.ASIA
Eeniqn
tyst
Unicameral
bone
o$eoma
Osteord
Malignant
0steogeni(
sarcoma
Ewrng
urcoma
LeLrkemla
Neuroblastoma
Spinal
cord
tum06
[{tEot0u5
Septi(
arthritis
Reartive
arthritis
05teomyehtis
Acute
5ubacute
Dhkiris
RHEUMAT()I.OGIC
Juvenile
rheumatoid
arthritis
(toxi(
synovitis
transient
syn0vitis)
Hipmonoarticular
0fthehip;LtPDl-egg-talv-Perthes
capital
femoral
epiphysrs
DDH.devel0pmentdl
dysplasia
direase;5tf[,slipped
0fkdilttk Dilgnlsislnd lheropy.
Philadel
Frcm
Thompson
GH:Gan
dlsturbances
InKliegman
RM(editot):Pra(tk0lStr0tegi6
phia,WB
l996,pp757-778
Saunders,

often warrants further investigation.The most frequent causesof

back pain in children are trauma, spondylolysis,spondylolisthesis, and infection. A list of common causesof back pain in children is presentedin Table 678-1. lt is important ro note that
tumor and tumor-like lesronsthat causeback pain in children are
likely to be missedunlessa thorough clinical issess-.ttt and adequate work-up are performed when required. Nonorthopedic
causesof back pain include urinary tract infections,rrephrolithia s i s ,a n d p n e u m o n i a .
A careful neurologic evaluation is a
NEUR0LOGIC
EVALUATI0N.
part of every pediatric musculoskeletalexamination (seeChaprer
should include evaluation of developmen-591).The assessment
muscle tone,
tal milestones,musclestrength,sensoryassessment,
and deep tendon reflexes.The neurologicevaluation should also
assessthe spine and identify the presenceof deformity, such as
scoliosisand kyphosis,as well as spinal mobility. Specificperipheral nerve examinationsmay be necessary.
As the nervous system matures, the developing cerebral cortex
normally inhibits rudimentary reflexes that are often present at
birth (seeChapter 591). Therefore, persistenceof these reflexes
beyond a certain age indicatesneurologic abnormality.The most
commonly performed deeprendonreflexesinclude biceps,triceps,
quadriceps, and gastrocsoleustendons. Localized or diffuse
weakness must be determined and documented. A thorough
assessmentand grading of muscle strength is mandatory in all
casesof neuromusculardisorders.
A commonly used system for grading of muscle strength is
basedon a scaleof 0 to 5:

Routine radiographsare the first step and

PLAINBADIOGRAPHS.
consist of anteroposteriorand lateral views of the involved area
u'ith one joint above and below. Comparison views of the opposite side, if uninvolved, may be helpful in difficult situations but
are not always necessary.It is important for the clinician to be
aware of normal radiographicvariants of the immature skeleton'
Severalsyuchondrosesmay be mistaken for fractures. Even a
patient with "normal" plain radiographicappearancebut having
persistentpain or synptoms may need to be evaluated further
with additior.ralimaging studiesif a turnor is suspected.
MEOIC|NEIMAGING.A bone scan displays physiologic
NUCLEAR
information rather than pure anatomy and relieson the emission
of energy from the nucleotide injected into the patient. lndications include early septic arthritis or osteomyelitis, avascular
necrosis,tumors (osteoidosteoma)'metastaticlesions,occult and
stressfractures,and casesof child abuse.
Tcrtalbody radionuclidescan (technetium-991is useful to identify bony lesions(inflamlnatory, tumors, stressfractures) and may
also help in evaluation of biologic activity of the primary bone
lesion. Tumor vascularity can also be inferred from the flow phase
and the blood pool images.Gallium or indium scanshave high
sensitivityfor local infections.Thallium-201 chloride scintiscans
have >90% sensitivityand between 80% and 907o accuracyin
detectingmalignant bone or soft-tissuetumors.
Ultrasonographyhas no ionizing radiation,
ULTRAS0N0GBAPHY.
no contrast material to be administered, and no biologically
harmful effects and can be repeated as oflen as necessary.The
equipment is portable; scanscan be obtained in any plane. The
disadvantagesof ultrasonography include the following: Bone is
not penetrated, sratic images are difficult to interpret, and- the
,.rul.t, nr. operator dependent. The maior indications for ultrasonographyare fetal studiesof the extremitiesand spine.including detection of congenital anomalies like spondylocostal
dyiostosis, osteogenesisimperfecta, developmentaldysplasia of
the hip, joint effusions, occult neonatal spinal dysraphism,
foreign bodresin soft rissues,and popliteal cysts of the knee.
IMAGING.MRI is the imaging modalitv of
RESONANCE
MAGNETIC
choice for further defining the exact anatomic extent of most
musculoskeletallesions.MRI avoids ionizing radiation and is presumed not to produce biologically harmful effects' It produces
excellentanatomic imagesof the musculoskeletalsystem'including the soft tissue, bone marrow cavitn spinal cord, and brain. It
is ispecially useful for soft-tissue lesions and helps in definition
of lesion and its extension (definesextent of involvement of neurovascular structures, physeal involvement, growth cartilage).
Tissue planes are well delineated' allowing more accurate assess-.rrt of lesion or tumor invasion into adiacentstructures.Cartilase structures can be visualized, and different forms can be
diitinguished (articular cartilageof the knee can be distinguished
from ihe fibrocartilageof the meniscus).MRI is helpful in visualizing unossifiedioints in the pediatric population including the
shoulders,elbows, and hips of young infants. MRI distinguishes

2t76r PARIXXXIr BoneandJointDisorderc

physiologicchangesthat occur in the bone marrow with respect
to ageand diseasesuchas avascularnecrosis.
MRI can be usefulin the evaluationof avascularnecrosisof
bone; infections and infarctions; spinal cord, nerve root, and

has largely
ssessment
of
good visualneovascularity in patientswith primary bone rumors. MRA is helpful
in
demonstrating encroachment onto and encasementof major
vesselsby the tumor mass.lfhile MRI may be sufficientto diagnoselargetumor thrombusin manycases,it is recommended
thit
MRA and ultrasonography
be consideredadiunctsto MRI in the
preoperativeplanning of limb-sparingresectionsin caseslike
osteosarcomasof the pelvis, especiallyif there appearsto be a
poor responseto chemotherapy.

dystrophin testing are indicated in children with suspecteddisorders of striated musclesuch as Duchenneor Beckermuscular
dystrophy.

BeebeAC, Kerpsack JM: Pediatric musculoskeletalexamination. In Dormans

JP (editor): Pediatric Orthopedics: Core Knoutledge in Orthopedics.
Philadelphia,MosbS 2005, pp 15-35.
Herring JA: The orthopedic examination: A comprehensive overview. In
HerringJA (editorl:Tachdjian's Pediatric Orthopedics,3rd ed. Philadelphia,
u7B Saunders,2002, pp 25-61.
Herring JA: The limping child. In Herring JA (editorl: Tachdiian's Pediatric
Orthopedics,3rd ed. Philadelphia, WB Saunders,2002, pp 83-94.
Herring JA: Imaging. In Herring JA (editor): Tachdjian's Pediatric Orthopedics, kd ed. Philadelphia, WB Saunders, 2002, pp 127-168.
Hosalkar HS, Garg S, Pollack A, Dormans JP: The diagnostic accuracy of MRI
vs. CT imaging for osteoid osteoma in children. Clin Orthop
2005;433:17l-177.
Hosalkar HS, Moroz L, Drummond DS, Finkel RS: Neuromuscular disorders
of infancy and childhood and arthrogryposis. In Dormans JP (editorl: Pediatric Orthopedics: Core Knou,led.gein Orthopedics,. Philadelphia, Mosby,
2005, pp 45482.
Jones DHA, Hosalkar HS, Jones S: The orthopaedic managementof osteogenesis imperfecta. Cun Orthop 2002;1,6:374-388.
Staheli LT: Normative data in pediatric onhopaedics. ! Pediatr Orthop
1996zl6z56l-562.
Sutherland DH, Olsten R, Cooper L, et al: The development of gait. ! Bone
Joint Surg Am 1980;62:336-353.

COMPUTED
T0M0GBAPHY.
CT has enhancedthe evaluationof
multiple musculoskeletal
disorders.Coronal, saginal,and axial
imagingis possiblewith CT includingthree-dimensional
reconstructionsthat can be beneficialin evaluatingcomplexlesionsof
the axial and appendicularskeleton.It allowsvisuilizationof the

CT is superiorto MRI for assessment

of boneinvolvementand
cortical destruction(evensubtlechanges),includingcalcification
or ossificationand fracture.Evaluarionof the aceiabulardome
and the bony pelvicanatomyis critical in periacetabular
tumors;
CT may be a helpfuladiuncrto MRI. Both helicalCT (HCT) and
high-resolutionCT (HRCT) (HCT being more sensitivethan
HRCT for detecting pulmonary metast;sis) remain the best
studiesfor detectingand evaluatingpulmonary metastasisand
also responseof theselesionsto chemotherapy.'

sarcomas.FDG-PET evaluationsof pediatric bone sarcomas

.lemonstrate significant alterarion in iesponse to neoadjuvant
'recurchemotherapy.Monitoring therapy and the diagnosisof
rencesof metastases
are potential usefulclinical indicationsof
FDG-PET.

Thesemay includea completeblood cell count; erythrocytesedimentationrate;C-reactiveproteinassay;Lymetiters;and blood,

wound, joint, periosteum,or bone culturesfor infectiousconditions like sepric arthritis or osteomyelitis.Rheumatoid factor,
antinuclear-antibodies,and human leukocyteantigenB.27may be
necessaryfor children with suspecred
rheumatologicdisorders.
Creatine kinase, aldolase, aspartate aminorraniferase,and

Abnormalities affecting the osseousand articular structures of the

concerns are common. The foot may be divided into the forefoot
(toes and metatarsals), the midfoot (cuneiforms, navicular,
cuboid), and the hindfoot (talus and calcaneus).While the tibiotalar joint (ankle) provides plantarflexion and dorsiflexion, the
subtalar ioint (berween the talus and calcaneus) is oriented
obliquelS providing inversion and eversion. Inversion represenrs
a combination of plantarflexion and varus, while eversion
involves dorsiflexion and valgus. The subtalar loint is especially
important for walking on uneven surfaces. The talonavicular and
calcaneocuboid joints connect the midfoot with the hindfoot.

. MrnrnRsus
673.1
ADDUcrus
Metatarsus adductus is common in newborns and involves
adduction of the forefoot relative to the hindfoot. rU7henthe forefoot is supinated and adducted, the deformity is termed metatarsus varus (Fig. 673-Il. The most common cause is intrauterine
molding; the deformity is bilateral in 50"/o of cases.As with other
intrauterine positional foot deformities, a careful hip examination should always be performed.

673r TheFootandToesr 2777

Ghapter
sionally lead patientsto considersurgery.Options for surgical
treatment include either soft-tissuereleaseor osteotomy.An
osteotomy(midfoot or multiple metatarsals)is most likely to
resultin permanentrestorationof alignment.

FEET
613.2o CALcANEOVALGUS
The calcaneovalgusfoot is a common finding in the newborn and
is secondary to in utero positioning. Excessivedorsiflexion and
eversion are observed in the hindfoot, and the forefoot may be
abducted. There may be an associatedexternal tibial torsion'

adductus
with a normalfoot on
Figure673-1.Clinicalpictureof metatarsus
oppositeside

The lateral border of the foot is convex, and the base of the Sth
metatarsal appears prominent. Range of motion at the ankle and
subtalar joints is normal. Both the magnitude and the degree of
flexibility should be documented. When the foot is viewed from
the plantar surface, a line through the midpoint of (and parallel
to) the heel should normally extend through the 2nd toe. Flexibility is assessedby stabilizing the hindfoot and midfoot in a
neutral position with one hand and applying pressure over the
1st metatarsal head with the other. In the walking child with an
uncorrected metatarsus adductus deformitS an in-toe gait and
abnormal shoe wear may occur. A subset of patients will also
have a dynamic adduction deformity of the great toe (hallux
varus), which is often most noticeable during ambulation. This
usually improves spontaneously and does not require treatment.
Radiographs are not performed rouBADI0GRAPHIC
EVALUATI0N.
tinely. Anteroposterior (AP) and lateral weight-bearing or simulated weight-bearing radiographs are indicated in toddlers or
older children with residual deformities. The AP radiographs
demonstrate adduction of the metatarsals at the tarsometatarsal
articulation and an increased intermetatarsal angle between the
1st and 2nd metatarsals.
The treatment of metatarsus adductus is based on
TREATMENT.
the rigidity of the deformity; most children respond to nonoperative treatment. Deformities that are flexible and overcorrect into
abduction with passivemanipulation may be observed.Those feet
that correct just to a neutral position may benefit from stretching exercises and retention in a slightly overcorrected position
by a splint or reverse-last shoes. These are worn full time
(2}hrlday\, and the condition is re-evaluated in 4-6 wk. If
improvement occurs, treatment can be continued. If there is no
improvement, serial plaster casts should be considered. When
stretching a foot with metatarsus adductus, care should be taken
to maintain the hindfoot in neutral to slight varus alignment to
avoid creating hindfoot valgus. Feet that cannot be corrected to
a neutral position may benefit from serial casting; the best results
are obtained when treatment is started before 8 mo of age. In
addition to stretching the soft tissues,the goal is to alter physeal
growth and stimulate remodeling, resulting in permanent correction. Once flexibility and alignment are restored, orthoses or corrective shoesare generally recommendedfor an additional period.
A dynamic hallux varus usually improves spontaneously and no
active treatment is required.
Surgical treatment may be considered in the small subset of
patients with symptomatic residual deformities that have not
responded to previous treatment. Surgery is generally delayed
until children are 4-6 yr of age. Cosmesisis often a concern, and
pain and/or the inability to wear certain types of shoesmay occa-

CtlNlCAt MANIFES l0N$. The infant typically presentswith the

foot dorsiflexed and everted, and occasionally the dorsum of the
foot will be in contact with the anterolateral surface of the lower

sis of the gastrocsoleusmuscle (polio, myelomeningocele).

RADI0GRAPHICEVAIUATI0N. Radiographs arc

usually

not

necessary.
TREATMENT.Mild cases of calcaneovalgus foot, in which full
passiverange of motion is present at birth, require no active treatment. These usually resolve within the 1st weeks of life. A gentle
stretching program, focusing on plantarflexion and inversion, is
recommendedfor caseswith some restriction in motion. For cases
with a greater restriction in mobiliry serial casts may.be considered to restore motion and alignment. Casting is rarely required
in the treatment of calcaneovalgus feet. The management for
those casesassociatedwith a posteromedial bow of the tibia is
similar.

o TAUpEs
(CtuBFooTl
EournovnRus
673.3
Clubfoot is the term used to describe a deformity involving
malalignment of the calcaneotalar-navicular complex. Components of this deformity may be best understood using the
mnemonic CAVE (cavus, adductus, varus, equinus). Although
this is predominantly a hindfoot deformity' there - are plantarflexion (cavus) of the 1st ray and adduction of the forefoot/midfoot on the hindfoot. The hindfoot is in varus and
equinus. The clubfoot deformity may be positional' congenital,
oi associatedwith a variety of underlying diagnoses (neuromuscular or syndromic).
The positional clubfoot is a normal foot that has been held in
a deformed position in utero and is found to be flexible on examination in thl newborn nursery. The congenital clubfoot involves
a spectrum of severity, while clubfoot associated with neuromuic.rlar diagnoses or syndromes are typically rigid and more
difficult to t.eat. Clubfoot is extremely common in patients with
myelodysplasiaand arthrogryposis.

2778r PART)0fi1 r BoneandJoint Disorders

Congenital clubfoot is seen in approximately 1/1.,000 births.
Although numerous theories have been proposed, the etiology is
multifactorial and likely involves the effects of environmental
factors in a genetically susceptiblehost. The risk is approximately
1 in 4 when both a parent and one sibling have clubfeet. It occurs
more commonly in males (2: t) and is bilateral in 50% of cases.
The pathoanatomy involves both abnormal tarsal morphology
(plantar and medial deviation of the head and neck of tlie talui)
and abnormal relationships berween the tarsal bones in all three
planes, as well as associatid contracture of rhe soft tissueson the
plantar and medial aspectsof the foot.
A complete physical examination
out coexisting musculoskeletal and
neuromuscular problems. The spine should be inspectedfor signs
of occult dysraphism. Examination of the infant clubfoot demonstrates forefoot cavus and adductus and hindfoot varus and
equinus (Fig. 573-21. The degree of flexibiliry varies, and all
patients will exhibit calf atrophy. Both internal tibial torsion and
legJength discrepancy (shortening of the ipsilateral extremity)
will be observed in a subset of cases.
RADIOGBAPHIC
EVALUATI0N.Anteroposterior and lateral radiographs are recommended, often with the foot held in the max-

Nonoperarive trearment is initiated in all infants and

TREATMENT.

additional surgery for recurrent or residual deformities. Stiffness

remains a concern at long-term follow-up. While pain is uncommon in childhood and adolescence,symptoms may appear during
adulthood. These concerns have Ied to considerable interest in
less invasive methods for treating the deformity. The Ponseti
method of clubfoot treatment involves a specific technioue for
manipulation and serial casring and may be best describedas minimally invasive rather than nonoperative. The order of correction
follows the mnemonic CAVE. \Teekly cast changes are performed;
five to 10 casts are typically required. The most difficult deformity to correct is the hindfoot equinus, and approximately 907o
of patients will require a percutaneous tenoromy of the heel cord
as an outpatient. Following the tenotomr a long leg cast with the
foot in maximal abduction (70 degrees) and dorsiflexion is worn
for 3 wk; the patient then begins a bracing program. An abduction brace is worn full time for 3 mo and then at nighttime for
3-5 yr. A subset of patients will require transfer of the tibialis
anterior tendon to the middle cuneiform for recurrence. Although
most patients require some form of surgery, the procedures are
minimal in comparison with a surgical release, which requires
capsulotomy of the major joints (and lengthening of the muscles)
to reposition the joints in space.The results of the Ponseti method
are excellent at up to 40 yr of follow-up. Compliance with the
splinting program is essential; recurrence is common if the brace
is not worn as recommended. Functional treatment, or the
"French method," involves daily manipulations (supervisedby a
physical therapist) and splinting with elastic tape, as well as continuous passivemotion (machine required) while the baby sleeps.
While the early results are promising, the method is labor intensive, and it remains unclear whether the technique will achieve
greater popularity in the United States. These minimally invasive
methods are most successful when treatment is begun at birth or
during the first few months of life.
Surgical realignment has a definite role in the management of
clubfeet, especially in the minority of congenital clubfeet that
have failed nonoperative or minimally invasive methods, and for
the neuromuscular and syndromic clubfeet that are characteristically rigid. In such cases, nonoperative methods such as the
Ponseti technique may potenrially be of value in decreasing the
magnitude of surgery required. Common surgical approaches
include a releaseof the involved joints (realign the tarsal bones),
a lengthening of the shortened posteromedial musculotendinous
units, and usually pinning of the foot in rhe corrected position.
The specific procedure is tailored to the unique characteristics of
each deformity. For older children with untreated clubfeet or
those in whom a recurrence or residual deformity is observed,
bony procedures (osteotomies) may be required in addition to
soft-tissue surgery. Triple arthrodesis is reserved as salvage for
painful, deformed feet in adolescents and adults.

673.4o CoNGENITAT
VERTIcAT
Tnlus
Congenitalvertical talus is an uncommonfoot deformity in which
the midfoot is dorsally dislocatedon the hindfoot. While approximately60%oof casesare idiopathic,407o areassociated
wiih an

Figwe 673-2. Clinical picture demonstrating clubfoot deformiry.

CtlNlCAt MANIFES l0ilS. Congenitalvertical talus has also

beendescribedas a rocker-bottomfoot (Fig. 673-3) or a Persian
slipper foot. The plantar surfaceof the foot is convex, and the

Chapter673 r The FootandToes I 2779

rigid flatfoot. Flatfoot describesa change in foot shape,and there
ari several abnormalities in alignment befween the tarsal bones.
There is eversion of the subtalar complex. The hindfoot is aligned
in valgus, and there is midfoot sag at the naviculocuneiform
andlor the talonavicular ioint. The forefoot is abducted relative
to the hindfoot. and the head of the talus is uncovered and prominent along the plantar and medial border of the midfoot/hindfoot. t0fhile hypermobile or flexible pes planus represents a
common source of concern for parents, these children are rarely

adulthood are usually associatedwith familial ligamentous laxity

and will be identified in other family members.
Figure673-3.Rocker-bottom
foot in congenital
verticaltalus.

CLINICALMANIFES

l0NS. Patients typically have a normal lon-

talar head is prominent along the medial border of the midfoot.

The fore part of the foot is dorsiflexed (dorsally dislocated on the
hindfoot) and abducted relative to the hindfoot, and the hindfoot
is in equinus and valgus. There is an associated contracture of
the anterolateral (tibialis anterior, toe extensors) and the posterior (Achilles tendon, peroneals) soft tissues. The deformity is
typically rigid. A thorough physical examination is required
to identify any coexisting neurologic and/or musculoskeletal
abnormalities.
EVALUATI0N.AP, lateral, and maximal planRADIOGRAPHIC
tarflexion radiographs should be obtained when the diagnosis is
suspected.The plantarflexion view helps to determine whether
the dorsal subluxation or dislocation of the midfoot on the hindfoot can be reduced passively.Although the navicular does not
ossify until 3-5 yr of age, the relationship berween the talus and
the 1st metatarsal may be evaluated.
TREATMENT.
The initial management consists of serial manipulation and casting, which is started shortly after birth. Initially, an
attempt is made to reduce the dorsal dislocation of the forefoot/midfoot on the hindfoot. Once this has been achieved,attention can be directed toward stretching the hindfoot contracture.
These deformities are typically rigid, and surgical intervention is
required in the majority of cases.In such cases,casting helps to
stretch out the contracted soft tissues. Surgery is generally per'J.2
formed between 6 and
mo of age; a soft-tissue release is
performed as a one- or two-stage procedure. One component
involves release/lengtheningof the contracted anterior soft tissues
in concert with an open reduction of the talonavicular joint, while
the other involves a posterior releasewith lengthening of the contracted musculotendinous units. Fixation with Kirschner wires is
commonly performed to maintain alignment. Postoperatively,
casting is employed for a variable period of time; patients often
require the use of an orthosis for extended periods, depending on
the underlying diagnosis. Salvage options for recurrent or residual deformities in older children include a subtalar or triple
arthrodesis.

and/or callus formation under the talar head medially. The shoes
should be assessedas well and may have evidence of excessive
wear along the medial border.
EVAIUATION,Routine radiographs of asymptoRADIOGRAPHIC
matic flexible flatfeet are usually not indicated. Weight-bearing

lar or naviculocuneiform ioint, resulting in flattening of the

normal medial longitudinal arch (Fig. 673-4).
TREATMENT.!7hile the natural history of the flexible flatfoot
remains unknown, there is little evidenceto suggestthat this condition results in long-term problems or disability. As such' treatment is reserved for the small subset of patients who develop

PEsPnruUS
673.5OHYPERMOBITE

(FLilsLrFmrrerr)

Flatfoot is a common diagnosis; it has been estimated that up to

23"/" of the public may be affected, depending on the diagnostic
criteria. Three types of flatfeet may be identified: a flexible flatfoot. a flexible flatfoot with a tendo-Achilles contracture, and a

Figwe 673-4. Lateral weight-bearing radiograph demonstrating features of

flatfoot.

2780r PART)O(XlI BoneandJoint Disorders

symptoms. Patients with hindfoor pain or those with abnormal
shoe wear may benefit from an orthosis such as a medial arch
support. Severecases,often associatedwith an underlying connective tissue disorder such as Ehlers-Danlos syndrome or Down
syndrome, may benefit from a cusrom orthosis such as the UCBL
(University of California Biomechanics Laboratory) to better
control the hindfoot and prevent collapse of the arch. !7hile an
orthosis may relieve symptoms, there is no evidence to suggest

lengthening, which addressesall components of the deformiry.

The procedure involves an osteotomy of the calcaneus, and a
Figure 673-5, CT scan of the talocalcanealcomplex demonstrating tarsal
coalition.

a spacerinto the sinus tarsi to block eversion at the subtalar ioint.

These procedures may be complicated by synovitis or loosening
of the implant.

673.6o TARSAI
CoRunoru
Tarsal coalition, also known as peroneal spasricflatfoot, is characterized by a painful, rigid flatfoot deformiry and peroneal
(lateral calf) muscle spasm but without true spasticity. It represents a congenital fusion or failure of segmentation berween rwo

The most common tarsal coalitions occur at the medial talocalcaneal (subtalar) facet and between the calcaneusand navicular (calcaneonavicular).Coalitions can be fibrous, cartilaginous,
or osseous.Tarsal coalition occurs in approximately 1.% of the
general population and appears to be inhirited as an autosomal
dominant trait with nearly full penerrance.Approximately 60%
of calcaneonavicular and 50o/" of the medial ficet talocaicaneal
coalitions are bilateral.

a cartilaginous bar ossifies. The timing of ossification varies

between the talonavicular (3-5 yr of age), the calcaneonavicular
(8-l2yrl, and the talocalcaneal(12-16yr) coalitions. Hindfoot

weight-bearing and non-weight-bearing positions. There is a

restriction in subtalar motion.

oblique radiograph. On the lateral radiograph, there may be

elongation of the anterior process of the calcaneus, known as the
"anteater sign." A talocalcanealcoalition may be seenon a Harris
(axial) view of the heel. On the lateral radiograph, there may be
narrowing of the posterior facet of the subtalar joint, or a Cshaped line along the medial outline of the talar dome and the
inferior outline of the sustentaculum tali ("C sign"). Beaking of
the anterior aspect of the talus on the lateral view is seen with
some frequencg and results from an alteration in the distribution
of stress. This finding does not imply the presence of degenerative arthritis. Irregularity in the subchondral bony surfaces may
be seen in patients with a cartilaginous coalition, in conuast to
a well-formed bony bridge in those with an osseouscoalition. A
fibrous coalition may require additional imaging studies to diagnose. While plain films may be diagnostic, a CT scan is the
imaging modality of choice when a coalition is suspected (Fig.
673-5). In addition to securing the diagnosis, this study helps to
define the degree of joint involvemenr in parients with a talocalcaneal coalition. lfhile uncommon, more than one tarsal coalition may be observed in the same patient.
TREATMENT.The treatment of symptomatic tarsal coalitions
varies according to the type and extent of coalition, the age of
the patient, and the presenceand magnitude of symptoms. Treatment is required only for symptomatic coalitions, and the initial
management consistsof activity restriction and nonsteroidal antiinflammatory medications, with or without a shoe insert. Immobilization in a short leg walking cast for 4-6 wk may be required
in patients with more pronounced symptoms. For patients with
chronic pain despite an adequate trial of nonoperative therap5
surgical treatment should be considered, and options include
resection of the coalition, osteotomy, or arthrodesis. For the calcaneonavicular coalition, resection and interposition of the extensor digitorum brevis muscle have been successful. The surgical
treatment of talocalcaneal coalitions is based on the degree of
joint involvement, as defined by CT. For patients with leis than
50% of the joint involved, resection of the coalition with interposition of fat or a split portion of the flexor hallucis tendon may
be considered. For those with extensive involvement of the ioint
and/or degenerative changes, a triple arthrodesis may be the best
option. The role of osteotomy in the management of tarsal coalition is currently under investigation.

673.1oCAvus
FEET

#i:Lrffirt:i?.#l;tri1i

Cavus is a deformity involving plantarflexion of the forefoot or

midfoot on the hindfoot and may involve the entire forepart of

Chapter673 I fhe FootandToes r 2781

P0PHYslrls
673.8o 0srEocHoNDRosE

pescavus.
Figure673-6. Clinicalpicturedemonstrating

associated with
the foot or just the medial column. The result is an elevation of
the longitudinal arch (Frg. 673-6), and a deformity of the hindfoot will often develop to compensate for the primary forefoot
abnormaliry. V/hile familial cavus may occur, the majority of
patients with this deformiry will have an underlying neuromuscular etiology. The initial goal is to rule out (and treat) any underlying causes.These diagnosesmay relate to abnormalities of the
spinal cord (occult dysraphism, tethered cord, polio, myelodysplasia) and peripheral nerves (hereditary motor and sensory neuropathies such as Charcot-Marie-Tooth disease,Dejerine-Sottas
disease.Refsum disease).While a unilateral cavus foot is most
Iikely to result from an occult intraspinal anomaly, bilateral
involvement usually suggests an underlying nerve or muscle
disease.Cavus is commonly observed in association with a hindfoot deformity. In cavovarus, the most common deformity in
patients with the hereditary motor and sensoryneuropathies,progressive weakness and muscle imbalance result in plantarflexion
of the 1st raylmedial column. For the foot to land flat,
the hindfoot must roll into varus. \fith equinocavus, the hindfoot is in equinus, while in calcaneocavus(usually seen in polio
or myelodysplasia), the hindfoot is in calcaneus (excessive
dorsiflexion).
TREATMENT.The Lst step involves identifying any underlying
diagnosis. Knowledge of the underlying diagnosis also helps to
determine the specific management. tilflith mild deformities,
stretching of the plantar fascia and exercises to strengthen weakened musclesmay help to delay progression.An ankle-foot orthosis may be necessary to stabilize the foot and improve
ambulation. Surgical treatment is indicated for progressive or
symptomatic deformities that have failed to respond to nonoperative measures. The specific procedures recommended will
depend on the degree of deformity and the underlying diagnosis.
In the case of a progressiveneuromuscular condition' recurrence
of deformity is commonly observed, and additional procedures
may be required to maintain a plantigrade foot. Families should
be counseled in detail regarding the disease process and the
expected gains from the surgery. The goal of surgery is to restore
motion and alignment and to improve muscle balance. For milder
deformities, a soft-tissue release of the plantar fascia, often combined with a tendon transfer, may suffice. For patients with a
fixed bony deformity of the forefoot/midfoot and/or the hindfoot,
one or more osteotomies may be required for realignment. A
triple arthrodesis (calcaneocuboid, talonavicular, and subtalar)
may be required for severe feet (or recurrent deformities) in older
patren$.

inflammation.

Calcaneal apophysitis (Sever

common. Radiographs should be consideredwhen the symptoms

are unilateral or with a failure to respond to treatment.

OFTHEFOOT
WOUNDS
673.9o PUNCTURE
Most puncture wound injuries to the foot may be adequately
in the emergency department. Tiatment involves a
-"tt"gid
thorough irrigation and a tetanus booster, if appropriate;.many
clinicia-ns will recommend antibiotics. Using this approach, the

oToEDrronnamrs
673.10
(BUNIONI
VATGUS
HATLUX
JUVENITE
Juvenilehallux valgusis most common in females,and is typiLaily associatedwith familial ligamentous laxity- A positive
family history is common. The etiology-is multifactorial, and
important factors include geneticfactors, ligamentouslaxit5 pes

2782r PARTXXXI I BoneandJoint Disorders

planus, wearing shoes with a narrow toe box, and occasionally
spasticity (cerebral palsy).

eral and may have a genetic basis. Symptoms are frequent and
involve pain over the dorsum of the toe from shoe wear. Nonoperative treatment has not been successful. For symptomatic
patients, several different options for reconstruction have been
described. Common features include releasing the contracted
extensor tendon and the MTP joint capsule (dorsal, dorsomedial,
or complete). A partial removal of the proximal phalanx and creation of a syndactyly between the 4th and Sth toes has been performed in conjunction with the release as well.

POTYDACTYTY
R
. Weight-bearing AP and lateral radio
ined. On the AP view, common measurements include the angular relationships between the 1st and
2nd_metatarsals (intermetatarsal angle, i10 degtees is normal)
and between the 1st metatarsal and the proximafphalanx (hallux
valgus angle, <25 degreesis normal). The orientition of the 1st

TBEATMENT.Conservative management of adolescent bunions

consists primarily of shoe modifications. It is important that
footwear accommodate the width of the forefoot. paiients should

Polydactylyis the most common congenitaltoe deformity and is

seenin approximately211,000births and is bilateralin 50% of

syndrome. The extra digit may be either rudimentary or well

formed, and plain radiographs of the foot help to define the
anatomy and evaluateany coexistingbony anomalies.Treatment
is indicated for cosmesisand to allow for fitting with standard
shoes.This involves surgicalremoval of the extra digit, and the
procedure is generallyperformed between9 and 12 mo of age.
Rudimentary digits may be surgicallyexcisedearlier, but shoild
not be "tied off."

SYNDACWTY
of the tendo-Achilles. The value of night splinting remains to be
determined. Surgical rreatment is reserved for thoie patients with
persistent and disabling pain who have failed a course of non-

Syndactyly involves webbing of the toes, which may be incomplete or complete (extends to the tip of the toes), and the toenails
ma_ybe confluenr. There is often a positive family history and the
3rd and 4th toes are involved most commonly. Symptoms are
extremely rare, and cosmetic concerns are infrequent. teatment
is only required for a subset of casesin which there is an associated polydactyly (Fig. 673-7). In such cases,the border digit is
excised, and the extra skin facilitates coverage of the wound. If
the syndactyly does not involve the extra toe, then it can be
observed. A complex syndactyly may be seen in patients with
Apert syndrome.

HAMMER
TOE

CUBTY
TOES

A hammer toe involves flexion at the proximal IP (PIP) joint with

or without the distal IP (DIP) joint, and the MTP ioint may be

A curly toe is caused by contracture of the flexor digitorum

longus, and there is flexion at the MTP and the interpha-langeal
(IP) joints associated
with medial deviationof the toi. Theloe
will usually lie underneathits neighbor,and the 4th and 5th toes

OVEBTAPPING
sTHTOE
Congenitaldigitusminimusvarus,or varus5th toe, involvesdorsiflexion and adduction of the 5th toe. The 5th toe iypically overIaps the 4th. There is also a rotarory deformity of ihe toe, and
the nail tends to point outward. The deformity is usuaily 6ilat-

Figwe 673-7. Clinical picture of polysyndactyly involving the grear toe.

Ghapter673 r TheFootandToesr 27[|il

hyperextended.This deformity may be distinguished from a curly
toe by the absence of rotation. The 2nd toe is most commonly
involved, and a painful callus may develop over the dorsum of
the toe where it rubs on the shoe. Nonoperative therapy is rarely
successful,and surgery is recommended for symptomatic cases.
A releaseof the flexor tendons will suffice in the majority of cases.
Some authors have recommended a transfer of the flexor tendon
to the extensor tendon. For severecaseswith significant rigidity,
especiallyin older patients, a partial or complete resection of the
proximal phalanx and a PIP fusion may be required.

MALTET
TOE
Mallet toe involves a flexion contracture at the DIP ioint and
results from congenital shortening of the flexor digitorum longus
tendon. Patients may develop a painful callus on the plantar
surface of the tuft. As nonoperative therapy is usually unsuccessful, surgery is required for patients with chronic symptoms.
For flexible deformities in younger children, releaseof the flexor
digitorum longus tendon is recommended. For stiffer deformities
in older patients, resection of the head of the middle phalanx, or
arthrodesis of the DIP joint, may be considered.

TOE
CLAW
A claw toe deformity involves hyperextension at the MTP joint
and flexion at both the PIP and DIP joints, often associatedwith
dorsal subluxation of the MTP joint. The majority are associated
with an underlying neurologic disorder such as Charcot-MarieTooth disease.The etiology is usually muscle imbalance, and the
extensor tendons are recruited to substitute for weakening of the
tibialis anterior muscle. If treatment is elected, then surgery is
required. Transfer of the extensor digitorum (or hallucis) tendon
to the metatarsal neck is commonly performed along with a
dorsal capsulotomy of the MTP joint and fusion of the fusion of
the PIP joint (lP joint of the great toe).

BANDS
ANNUTAR
Bands of amniotic tissue associatedwith amniotic disruption syndrome (early amniotic rupture sequence,congenital constriction
band syndrome, annular band syndrome) may become entwined
along the extremities, resulting in a spectrum of problems from
in utero amputation (Fig. 673-8) to a constriction ring along a
digit (Fig. 673-9\ (seeChapter 108). These rings, if deep enough,
may result in impairment of arterial or venous blood flow. While

Figure 673-8. Constriction band syndromewith congenitalamputation

Figtre 673-9. Constrictionbandsyndromewith foot involvement.

concerns regarding tissue viability are less common' swelling

from impairment in venous return is often a great problem' The
of annular bands usually involves observation;
t..rt-.ttt
however, circumferential release of the band may be required
emergently if artertal inflow is obstructed or electively to relieve
venous congestron.

MACRODACTYLY
Macrodactyly represents an enlargement of the toes and may
occur as an isolated problem or in association with a variety of
other conditions such as Proteus syndrome (Fig. 673-10)' neu-

enlargement of the entire foot. In addition to cosmetic concerns,

patie;ts may have difficulty wearing standard^shoes.The treatment is observation, if possible. This is a difficult condition to

F'igure673-10. Macrodactyly of the great toe in a case of Proteus syndrome.

2784r PARTXXXI I BoneandJointDisorders

best in societies where shoes are not worn. Well-cushioned,
shock-absorbing shoes are helpful in the child and adolescenr
athlete in order to decreasethe chancesof developrng an overuse
syndrome. Otherwise, shoe modifications are generally reserved
for abnormalities in alignment between segmentsof the foot or
symptoms from an underlying condition. Numerous modifications are available.

SUBUNGUAT
EXOSTOSIS

i s i n t h e r a n g eo f 1 0 % .

INGROWN
TOENAIT
Ingrown toenails are relatively common in infants and young
children and usually involve the medial or lateral border of the
great toe. Symptoms include chronic irritation and discomfort,
and recurrentinfection is seenin somecases.If conservarrvemeasuresincluding shoe modifications,warm soaks,and appropriate
nail trimming fail to control the symptoms, then surgicli removal
of a portion of the nail should be considered.

o PATNFUT
673.11
Foor

Akcali O, Tiner M, Ozaksoy D: Effectsof lower extremity roranon on prognosesof flexible flatfoot in children. Foot Ankle lnt 200O)1:72-74.
Bhone VH: Tarsal coalition. Curr Opin Pediatr 2001;13:29-35.
Chang CH, Kumar SJ,Riddle EC, Glutting J: Macrodactylyof the foot.J Bone
J oint Surg Am 2O02;84:11 89-11.94.
Coughlin MJ: Lessertoe abnormalities.Instr CourseLect 2003;52:421444.
Furdon SA, Donlon CR: Examination of the newborn foot: Positional and
structural abnormalities.Adu N eonatal Care 2002:2:248-258.
Giannini BS, CeccarelliF, BenedettiMG, er al: Surgicaltreatmenr of flexible
flatfeet in children: A four-year follow-up study.I Bone Joint Surg Am 2007;
83:78-79.
HerzenbergJE, Radler C, Bor N: Ponsetiversustraditional methodsof castins
for idiopathic clubfoot. J Pediatr Orthop 2002;22:517-521.
Ippolito E, Fraracci L, Farsetti 4 et al: The influence of treatment on the
pathology of clubfoot. CT study ar maturity. J Bone Joint Surg Br
2004:86:574-580.
Lin CJ, Lai KA, Kuan TS, et al: Correlating factors and clinical significance
of flexibleflatfeetin preschoolchildren.J PediatrOrtbop 2001;21:378-382.
Lincoln TL, SuenPW: Common rotational variationsin children.J Am Acad
O r t hop Surg 2O03;1 1:3 12-320.
Lokiec F, Ezra E, Krasin D, et al: A simple and efficientsurgicaltechniquefor
subungual exostosis.J Pediatr Ortbop 2001,;21:76-79.
Mazzocca AD, Thomson JD, Deluca PA, RomnessMJ: Comparison of the
posterior approachversusthe dorsal approachin the treatment of congenital vertical talus. J Pedia* Orthop 2001;21:272-277.
MorcuendeJA, Dolan LR, Dietz FR, PonsetiIV Radical reduction in the rate
of extensivecorrective surgery for clubfeet using the Ponseti merhod. pediatr ics 2004;113 :376-380.
Morley SE, Smith PJ: Polydactylyof the feet in children: Suggestionsfor surgical management.Br J Plast Surg 20O1;54:34-38.
Noonan KJ, Richards BS: Nonsurgical managemenrof idiopathic clubfoot. /
Am Acad Orthop Surg 2003;11:392402.
Roye DP Jr, Roye BD. Idiopathic congenitaltalipesequinovarus.J Am Acad
Ort h op Surg 2002;70:239-248.
Thometz J: Tarsal coalition. Foot Ankle CIin 2000;5:1,03-L18.

o SHoEs
673.12
In toddlers and children, a shoe with a flexible sole is recommended. This recommendationis in part based on studies suggesting that the development of the longitudinal arch r..-. to b-.

0-6Yr

6-12Yr

12-20Yr

Poorly
fttingshoes
Foreign
bdy
Fracture
osteomyelitis
Leukemia
Puncture
wound
Drawing
ofblood
Darylits
JRA

Poorly
fitting
shos
Sever
disease
(jRA)
Enthesopahy
Foreign
bdy
Accessory
navicular
Tarsal
coalition
Ewing
sarcoma
Hypermobile
flatfoot
(spnins,
Trauma
fractureg
Puncture
wound

Poorly
frtting
shoes
Stress
fracture
Foreign
body
Ingrown
toenail
Metatarsalgia
Plantar
fdsciitis
(avascular
0ste0ch0ndr0ses
necrosrs)
Frerberg
Kdhler
Achrlles
tendinitis
(sprains)
Trauma
Plantar
warts
Ta6al
coalition

lRA,juveniie
rheumatoid
arthriris

o NonrtaRl
674.1
DwelopueNT
0FLIMB
Pediatricians routinely evaluate lower extremity alignment problems and foot morphology. An understanding of the normai limb
development is essential to recognize pathologic conditions.
During the 7th wk of intrauterine life, the lower limb rotates
medially to bring the grearertoe roward the midline. The hip yoint
forms by the 11th wk; the proximal femur and acetabulum continue to develop until physeal closure in adolescence.At birth,
the femoral neck is rotated forward by 40 degrees.This forward
rotation is referred to as anteversion (the angle between the axis
of the femoral neck and the transcondylar axis). The increased
anteversionincreasesthe internal rotation of the hip. The femoral

r 2785
Deformities
andAngular
574r Torsional
Chapter
Angle
FootProgression
FPA

Rotational Profile

11 13 15-19
I
Age (years)
Medial Rotation
MB boys

Medial Rotation
MR girls

80

80

60

60

40

40

20

20

2SD

11

13 15-19

Age(v0

2SD
7

30's 50's 70+

11 13 1F19
ASe (yr)

30's 50's70+

Thigh-Foot Angle

Lateral Rotation

TFA
40

2SD

20
60

2SD

40

2 SD

20
1

11 13 15-19 30's 50's70+

Age(Y0

O
-20

2SD

-40
1

11 13 15-19
ASe (Yr)

30's 50's 70+

proFigure 674-1. The rotational profile from birth to maturity is depictedgraphically.All graphs include 2 standard deviationsfrom the mean for the foot
gi.tr;, and the thigh-foot angle (TFA). (From Morrissey RT, WeinsteinSL [editors]:
g.lrrion angle (FpA) for femoial medial and lateral rotation (for toys
"nd
Louell and Winter'sPediatric Orthopaedics,3rd ed. Philadelphia,Lippincott \Williams& Iifilkins' 1990.)

anteversion decreasesto 15-20 degrees by 8-10 yr of age. The

second source of limb rotation is found in the tibia. Infants may
have 30 degreesof medial rotation of the tibia, and by maturity
the rotation is between 5 degreesmedial rotation to L5 degrees
of lateral rotation (Fig. 674-l). Excessivemedial rotation of tibia
is referred to as medial tibial torsion. The tibial torsion is the
angular difference between the axis of the knee and the transmalleolar axis. The medial or lateral rotation beyond +2 standard
deviations (SDs) from the mean is considered as abnormal rotation and therefore considered as a deformity.
Limb rotation is also found in the foot. The abnormalities
could be excessive adduction or abduction. During skeletal
growth there is lateral rotation in both the femoral and tibial segments: therefore. the medial tibial torsion and femoral anteversion in children improve with time. Lateral tibial torsion usually
worsens with growth. Torsional deformity may be simple, involving a single segment, or complex, involving multiple segments.
Comolex deformities may be additive (internal tibial torsion and
internal femoral torsion are additive) or comPensatory (external
tibial torsion and internal femoral torsion are compensatory).
The normal tibiofemoral angle at birth is 10-15 degrees of
physiologic varus. The alignment changesto 0 degreesby 18 mo,
and physiologic valgus up to 12 degreesis reached in between 3
and 4yr of age. The normal valgus of 7 degreesis achieved by
5-8 yr of age (Fig. 674-2). Persistenceof varus beyond 2yr of

ase may be pathologic. Overall, 95"/" of developmental physiotJgic genu u"tu- ,nd genu valgum casesresolve wtth growth.
This ii also true for children with more pronounced physiologic
varus or valgus, although some casesmay not be completely corrected until adolescence.

614.2o EvAtuATtoN
The history should focus on the onset, progression, functional
limitations. previous treatment, evidence of neuromuscular disorder, and any significant family history. A detailed history is
important in arriving at a diagnosrs
i'he examination consists of assessing the exact torsional
profile and is beneficial in diagnosing the level and severity of any
iorsional problem. This profile includes ( l ) foot ,progression
angle, (2) iemoral anteversion, (3) tibial version with thigh-foot
an[le, atrd (4) assessmentof foot adduction and abduction.

(FPA)
ANGTE
PROGRESSION
FOOT
Limb position during gait is expressedas the foot progression
betweenthe axis of
the angulardifference.
angleand represents
the"footwith the directioninwhich the child is walking.The FPA

2786r PABTXXXII BoneandJointDisorders

Developmentof the tibio-femoral

angle during growth

Varus +
Valgus

+ 15'

Figure 674-2. The normal coronar

alignment of the knee plotted for age.
(From SaleniusP, Vanka E: The development of the ribiofemoral angle in
children J Bone Joint Surg Am
1 9 75 ; 5 7 : 2 5 9 - 2 6 1 . )
al>
:f
(d

- 15.

6
o

--,
r.l

-fx
tJJ > i

I
N

C\I
I
N

I
v

(\l

I
c)

I
o

I
o

tl

is the summation of femur, tibia, and foot rotations. Its vaiue is

usually estimatedby asking rhe child to walk in the ciinic hallway
(Fig. 674-3).lnward roration of the foot is assigneda negative
value, and outward rorarion is designated with- positive value.
The normal FPA in children and adolescenrs
is 10 degtees(range,
-3 to 20 degrees).The FPA serves only to define
whether there
i s a n i n - t o e i n go r o u t - r o e i n gg a i t .

FEMORAT
ANTEVERSION
Measuring the hip rorarion witl.r the child in prone position, the
hip in neutral flexion or exrension, thighs together, a;d the knees
flexed 90 degreesindirectly assesses
thi anteversion(Frg.674-4).
Both hips are assessed
ar rhe sametime. As the lower leels rotated
ipsilaterally,this produces internal roration of the hip, whereas

(\l

TI

+l

TI

contralateral rotation produces external rotation. Excessive

anteversion increasesinternal rotation, and, vice versa, rerroversion increasesthe external rotation.

TIBIAL
ROTATION
The tibial rotation is measured using the transmalleolar angle
(TMA). The TMA is the angle between the longitudinal axis of
the thigh with a line perpendicular ro rhe axis of the medial and
lateral malleolus (Fig. 674-5).In the absence of foor deformity.
the thigh foot angle (TFA) is preferred(Fig.674-6).It is measured
with the child lying prone. The angle is formed between the longitudinal axis of the thigh and the longitudinal axis of the foot.
It measuresthe tibial and hindfoot rorational status. Inward rotation is assigneda negative value, and outward rotation is desig-

Figwe 674-3. Foot progressionangle. The

long axis of the foor is compared with the
directionin which the child is walkine. If the
l o n g a x i s o f t h e f o o t i s d i r e c t e do u r * a r d l y ,
the angle is positive. If the foor is directed
inwardly, the angleis negativeand is indicative of in-toeing. (From Thompson GH:
Gait disturbances.In KliegmanRM [editor]:
Practical Strategies in Pediatric Diagnosis
and Therapy. Philadelphia, Elsevier/Saunders,2004.)

I 2787
andAngulargs1eflni1is5
674I Torsional
Ghapter

with thepatientsittingat the

angleis measured
Figure674-5,Transmalleolar
alignedwith the sideof the
edgeof thetableand thedistalfemoralcondyles
t.bl.. Th. anglebetweena line throughthe medialand Iateralmalleoliand
external.(FromBleck
30 degrees
edgeof the tableshouldbe approximately
EE: OrthopaedicManagementin CerebralPalsy.London' MacKeith Press,
1 9 8 7p, 5 5 )

measured
Figure674-4.Anteversion
by medialrotationof hrp(A) andlateral
rotationof hip 1Bl.

nated a oositive
-whereasvalue. Inward rotation indicates internal tibial
outward rotation represents external tibial
torsion,
torsion. Infants have a mean angle of -5 degrees(range, -35 to
40 degrees)as a consequenceof normal in utero position. In midchildhood through adult life, the mean TFA is 10 degrees(range,
-5 to 30 degrees).The difference between the TMA and the TFA
is a measure of the hindfoot rotation.

torsion is controversial. Some believe that it is congenital and a

result of Dersistentinfantile femoral anteversion, whereas others
sitting habits. Some
believe itls acquired secondary to abnormal
'W
position or sleepingprone.
children are in habit of sitting in a
On examination, most children with this condition have generalized ligamentous laxity. Gait examination revealsthat entire leg
is inwaidly rotated. Internal hip rotation is increased beyond
70 degrees,and consequently the external rotation is restricted
to 10-20 degrees. The patellas are pointing inward when the
foot is straight, and compensatory external rotation of tibia is
demonstrated.
Diagnosis is made clinically on examination,.but CT can obtain
obiective measurements, which are rarely indicated' The treat-

FOOT
ANDPOSITION
SHAPE
The foot is observed for any deformities in prone and standing
position. The heel bisector line (HBL) is used to evaluate the foot
adduction and abduction deformities. The HBL is a line that
divides the heel in two equal halves along the longitudinal axis
(Fig.67a-7).It normally extends to the 2nd toe. When the HBL
points medial to the 2nd toe, the forefoot is abducted, and when
the HBL is lateral to the 2nd toe, the forefoot is adducted.
It is also important to screenevery affected child for associated
hip dysplasia and neuromuscular problems (cerebral palsy).

DEFORMITIES
674.3o TORSIONAL
TORSION
FEMORAT
INTERNAL
Excessivefemoral anteversionis the most common deformity presenting as in-toeing gait. It occurs more commonly in girls than
boys (2:1) in the 3-6yr of age Broup. The etiology of femoral

Figve 674-6. Thigh foot angle

2788r PABTXXXI I BoneandJointDisorders

SCFE can produce functional impairment such as a severe outtoeing gait and difficulty opposing one's knees in the sitting position. The latter can be disabling ro adolescent females. Should
this occur, a derotation osteotomy might be necessary.

EXTERNAI
TIBIATTORSION
Lateral tibial torsion is less common than medial rotation and
frequently associatedwith a calcaneovalgusfoot. It can be compensatory to persistent femoral anteversion, idiopathic or secondary to a tight iliotibial band. The natural growth rorates rhe
tibia externally, and hence external tibial torsion can become
worse with time. Clinically, the patella faces outward when the
foot is straight. The TFA and the TMA are increased.There may
be associatedpatellofemoral instability with knee pain. Thougir
some correction may occur with growth, extremely symptomatic
children need supramalleolar osteotomy, which is usually done
by 10-12 yr of age.

METATARSUS
ADDUCTUS
NORMAL
Figurc(r7.1-7Schemaric
demonstrarion
of heelbisectorlinc.

ment is predominantly observation and correction of abnormal

INTERNAT
TIBIAT
TOBSION
Medial tibial torsion presenrswith in-toeing gait and is commonly associatedwith congenital metatarsus varus, genu valgum,
or femoral anteversion. This condition is usually seJn during the
Znd,yr of life. Normally at birrh, the medial malleolus lies behind
the lateral malleolus, but by adulthood, it is reversedwith the
tibia in 15 degrees of exrernal rotarion. Clinically, they have
decreasedTFA and TNIA. The trearment is essentially obse.u"tion and reassurance,as spontaneousresolution with normal
growth and development can be anticipated. Significant improvement usually doesnot occur until the child beginsto pull tostand
and walk independently. Thereafter, correction can be seen as
early as 4 yr of age and in some children by 8-10 yr of age. Other
than observation, occasional bracing for torsion ol >40 degrees
has been attempted. Persisrentdeformity with functional impairment is treated with supramalleolar osteotomy.

This presents with forefoot adduction and inversion of all

metatarsals. Ten to 15% are associaredwith hip dysplasia. The
prognosis is good, as the majority get better with nonoperative
intervention. The HBL is used to assessthe degree of deformity.
The feet, which are flexible and correctable up to neutral, are
treated with stretching exercises.Those that are not completely
correctable are treated with serial casting. Rigid deformities,
which are not correctable by stretching, are treated with medial
capsulotomy of 1st metatarsal cuneiform joint and soft-tissue
releaseby 2yr of age. Osteotomies of the base of the metatarsal
are usually done after 6 yr ol age (Chapter 673.L,.

o CoRoNAr
674.4
PlRnrDrronmrlrs

GENU
VARUM
Physiologic bowleg is a common torsional combination that is
secondary to normal in utero positioning. Spontaneous resolu-

EXTEBNAT
FEMORAT
TOBSION
External femoral rorsion may follow a slippedcapiral femoral
epiphysis(SCFE);thereis a low rhresholdto performradiographs
of the hips in childrenolder than 10 yr of age.Femoralr.irotorsion, when of idiopathicorigin, is usuallybilateral.The disorder
is associated
with an out-toeinggait and increasedincidenceof
degenerativearrhriris. The clinical examination of external

TIBIAVARA
Idiopathic tibia vara, or Blount disease,is a growth disorder of
the medial aspect of the proximal tibial epiphysis, leading to
varus angulation and medial rotation of the tibia (Fig. 674-8).
The incidence is greater in female black obese children who have
an affected family member, started walking early in life, or reside
in certain geographic locations such as the southeastern part of

r 2789
andAngularDeformities
674 I Torsional
Chapter

PHYSr0toGr(
ASYMMETRIC
GROu,TH
(Blount
Tibia
vara
dhease)
Infantile
Juvenile
Adolesrent
Focal
fibrocartilaginous
dysplasia
Physeal
Injury
Trauma
lnfection
Tumor
METABOI.I(
DISORDERS
(nutriti0nal
Vitamin
Ddeficiency
ri(ke6)
D-resistant
rkkets
Vitamin
Hypophosphatasia
SKEI.EIAT
DYSPTASIA
Metaphyseal
dysplasia
Achondroplasia
Enchondromatosis
ln [hapman
MW{editor):0perative
0rth0pedi6,
ltodifedfromThompson
GH:Angular
deformties
ofthel0wer
extremities
pp3131-1164,
2ndedPhiladelphia,
JBLippinofi,1993,

United States.It has been classifiedinto three types depending on

the age at onset: infantile (1-3 yr), juvenile (4-10yr), and adolescent (11yr or older). The juvenile and adolescentforms are
commonly combined as late-onset tibia vara. Although the exact
cause of tibra vara remains unknown, it may be secondary to
growth suppressionfrom increasedcompressiveforces acrossthe
medial asoectof the knee.
The infintile form of tibia vara is the most common; its characteristicsinclude predominance in black females, approximately
80% bilateral involvement, a prominent medial metaphyseal
beak, internal tibial torsion, and leg-length discrepancy (LLD).
The characteristics of the juvenile and adolescent forms (late
onset) include predominance in black males, normal or greater
than normal height, approximately 50% bilateral involvement,
slowly progressivegenu varum deformity, pain rather than deformity as the primary initial complaint, no palpable proximal
medial metaphyseal beak, minimal internal tibial torsion, mild
medial collateral ligament laxitn and mild lower extremity length
discrepancy. The infantile group has the greatest potential for
proSresslon.
An anteroposterior standing radiograph of both lower extremities with patellas facing forward and a lateral radiograph of the
involved extremity should be obtained (Fig. 67a-9\. Weightbearing stanceradiographs are preferred and allow maximal presentation of the clinical deformity. The metaphyseal-diaphyseal
angle can be measured and is useful in distinguishing between
physiologic genu varum and early tibia vara (Fig. 674-10\. Langenskiold has classified it on radiographic appearance in six
stages (Fig. 674-11). The differentiation is based on findings of
fragmentation of the epiphysis, beaking of the medial tibial
epiphysis, depressionof the medial tibial plateau, and formation
of a bony bar. Occasionally, arthrography, CT with threedimensional reconstructions, or MRI may be necessaryto assess

Physiologk
Bowing
andsymmetric
deformity
Gentle
<11degrees
Metaphyseal-diaphyseal
angle
oftheproximal
tibialgrowthplate
Normal
appearance

lateral
thrust
Nosignificant

Disease
Blount
abrupt,
andsharp
angulation
Asymmetric,
>l I degrees
angle
Metaphyseal-diaphyseal
Medial
sloping
ofthe
epiphysis
physis
Widening
ofthe
Fragmentation
ofthemetaphysis
lateral
thrust
5ignifi(ant

lrqurc ('--l 1.. Bowing of both legsin infantile Blount disease

I i.turc (rl-+-9 Anteroposterior

radiograph of both knees in Blount disease'

2790r PARTXXXIr BoneandJointDisorders

fibular diaphysealosteotomy are usually the proceduresof choice.
In late-onset tibia vara, correction is also necessaryto restore the
mechanical axis of the knee. Hemiplateau elevation with correction of posteromedial slope has also been established as a treatment modality in relapsed cases.

(KNOCK-KNEES}
GENU
VALGUM
M-D angle

The normal valgus is achieved by 4 yr of age. Variation up to 15

degreesof valgus is possible until 6 yr of age, and thus physiologic valgus has a good chance of correction until this age. The
intermalleolar distance with the knee approximated is normally
<2 cm, while in a severe valgus deformity, it could measure
>10 cm. Pathologic conditions leading to valgus are metabolic
bone disease (rickets, renal osteodystrophy), skeletal dysplasia,
posttraumatic physeal arrest, tumors, and infection. The
increased valgus at the knee causes lateral deviation of the
mechanical axis with stretching of the medial aspect of the knee
leading to knee pain. Deformities >15 degreesand occurring after
6 yr of age arc unlikely to correct with growth and require surgical management. In the skeletally immature, medial tibial epiphyseal hemiepiphysiodesis is artempted for correction. In the
skeletally mature, osteotomy is necessaryat the center of rotation of angulation and is usually situated in the distal femur. Long
length anteroposterior radiographs of the leg in a weight-bearing
stance are necessaryfor preoperative planning.

o CoNcENtrAr
674.5
ANGUTAR
Drronmmes
Figure 674-70. Metaphyseal-diaphyseal
(M-D) angle.Draw a line on the radiograph through the proximal tibial physis.Draw another line along the lateral
tibial cortex. Last, draw a line perpendicularto the shaft line as demonstrated
in the diagram. (From Morrissey R! Veinstein SL [editors]: Louell and
Winter's Pediatric Ortbopedics,3rd ed. Philadelphia,Lippincott Williams &
\Uilkins.1990.)

the meniscus, the articular surface of the proximal tibia including the posteromedial slope, or the integrity of the proximal tibial
pnysls.
. Management is based on the stage of the disease,the age of
the child, and nature of presentation (primary or recurrent diformity). In children younger than 3 yr old and Langenskicild stage
<3, bracing is effective and can prevent p.ogression in S0%;f
these children. A maximal trial of I yr of orthotrc managemenr
is recommended. If complete correction is not obtained after 1 yr
or if progr.essionoccurs during this time, a corrective osteotomy
may be indicated. The other indications for surgical treatment are
children older than 4 yr of age, Langenskiold stage>3, and severe
deformities. A proximal tibial valgus osteotomy and associated

tll

ill

OFTHETIEN RI{OFIgUtA
POSTEROMEDIAT
TIBIAT
BOWING
The cause of congenital posteromedial bowing is unknown. It is
usually associatedwith a calcaneovalgusfoot and rarely with secondary valgus of the tibia. This bowing has good porential to
correct with growth and hence no early operative intervention.
However, despite the correction of angulation, there is residual
shortening in the tibia and fibula. The mean growrh inhibition is
12-t3% (range, 5-27%). The mean LLD at maturity is 4 cm
(range, 3-7 cm). The diagnosis of bowing is confirmed on radiographs, which show the posteromedial angulation without any
other osseousabnormalities. The calcaneovalgusdeformity of the
foot improves with stretching or modified shoe wear and occasionally ankle-foot orthosis. Predicted LLD <4 cm is managed
with age-appropriate epiphysiodesisof the normal leg. LLD >4
cm is managed with combination of contralateral epiphysiodesis
and ipsilateral lengthening. A corrective osreotomy for distal
valgus may be required and can be done in the same setting while
correcting LLD.

VVI

Figure 674-ll. Depiction of che stagesof infantile Blount disease (From LangeskioldA: Tibia vara (osteochondrosis
deformans
tibiae):A surveyof 23 cases.
Acta Cbir Scand 1952;103:1.)

Ghapter675 I

(POSTAXIAT
AIITEROMEDIAT
TIBIAL
BOWING
HEMIMEI.IA}
Fibular hemimelia is the most common cause of anteromedial
bowing of the tibia. The fibular deficiency can present with complete absenceof fibula or a partial development both proximally
and distally. It is associatedwith deformities of femur, knee, tibia,
ankle, and foot. The femur is short and has lateral condylar
hypoplasia causing patellar instability and genu valgum deformity. The tibia has anteromedial bowing with reduced growth
potential. The keys for management are the ankle stability and
foot deformities. The ankle resemblesa ball-and-socket joint with
lateral instability. The foot deformities are characterized by
the absence of lateral digits, equinocavovarus foot, and tarsal
coalition.
Various surgical options have been described, and the treatment is tailored to the individual's needsand oarental acceDtance.
A severelydeformed foot could be best managed with Syme or
Boyd amputation, with prosthesis as early as 1 yr of age. In the
salvageablefoot, LLD can be treated with contralateral leg epiphysiodesis or ipsilateral limb lengthening.

TIBIAT
AIIITEROIATERAI
BOWI
NG
Anterolateral tibial bowing is associated with congenital
pseudarthrosis of tibia. Fifty percent of the patients have neurofibromatosis, while only 70o/" of the neurofibromatosis patients
have this lesion. The pseudarthrosis or site of nonunion is typically situated at the middle third and distal third of the tibia. Boyd
has classified it in increasing severity depending on the presence
of cystic and dysplastic changes.The treatment for this condition
has been very frustrating with poor results. Bracing has been recommended to prevent fracture early in the course; however, it has
not been successful.Numerous surgical interventions have been
attempted to achieve union such as single- and dual-onlay grafting with rigid internal fixation, intramedullary pinning with or
without bone grafting, and an llizarov device. $7ith the advent
of microsurgery, live fibular grafts have been used with varying
results. Due to the poor chancesof successfulunion and considerable LLD, a below-knee amputation with early rehabilitation
may be preferred. It is important not to attempt any osteotomy
for correction of the tibial bowine.

Leg-Length Discrepancy I 2791

Davids JR, Blackhurst DIf, Allen BL Jr: Radiographicevaluation of bowed

legs in children.J Pediat Orthop 200L;2L:257J63.
Do TT: Clinical and radiographic evaluation of bowlegs. Curr Opin Pediatr
2001:13:4246.
Doyle BS, Volk G, Smith CI: Infantile Blount's disease:Long-term follow-up
of surgically treated patients at skeletal maturity. J Pediatr Ortbop
1996;16:469475.
angle in
Feldman MD, SchoeneckerPL: Use of metaphyseal-diaphyseal
the evaluation of bowed legs. J Bone loint Surg Am 1993;75:1'6021.609.
Heath CH, Staheli LT: Normal limits of knee angle in white children-genu
varum and genu valgum. J Pediatr Orthop 1,993;13:259-262.
Henderson RC, Kemp GJ, Greene WB: Adolescent tibia vata: Alternatives for
operativetreatment.J Bone Joint Surg Am 1'992;74:342-350.
Henderson RC, Kemp GJ, Hayes PRL: Prevalenceof late-onset tlbia vara' J
Pediatr O rth op 1993;13:255 -25 8.
Johnston CE II: Infantile tibia vara. CIin Orthop 1'990;255:13-23.
Ruwe PA, Gage JR, Ozonoff MB, et al: Clinical determination of femoral
anteversion: A comparison of establishedtechniques'/ Bone Joint Surg Am
L992;74:820-830.
SaleniusR Vankka E: The developmentof the tibiofemoral angle in children'
J Bone Joint Surg Am 1975;57:259-261.
Staheli LT: Rotational problems in children. Am Acad Orthop Surg lnstr
Course Lect 1994;43:199:209.
StevensPM, Maguire M, DalesMD, et al: Physealstaplingfor idiopathicgenu
valgum./ Pediatr Orthop 1999;19:645-649.
Thompson GH: Angular deformities of the lower extremities in children' In
Chapman MV (editor): Operatiue Ortbopedics, 3rd ed' Philadelphia'JB
Lippincott, 2001, pp 42874335.
Thompson GH: Gait disturbances.In Kliegman RM (editor):PrdcticalStrdtegies in Pediatric Diagnosis and Therapy,2nd ed. Philadelphia, WB Saunders, 2003, pp 823-843.
Wallach DM, Davidson RS: Pediatric lower limb disorders.In Dormans JP
(editor): Core Knotuledge in Orthopaedics: Pediattic Orthopaedics.
Philadelphia,Mosbn 2005, pp L97-223.
rVallach DM, Davidson RS: Pediatric lower limb disorders.In Dormans JP
(editor): Pediatric Orthopaedics and Sports Medicine: The Requisites in
Pediatrics.Philadelphia,Mosby, 2005' pp 246-272'

TONGITUDI]IIAL
DEFICIENCY
TIBIAL
This follows an autosomal dominant inheritance pattern and has
been divided in four types depending on the deficient part of the
tibia. The other associated anomalies are foot deformities, hip
dysplasia, and symphalangism of the hand. The treatment
revolves around presenceof proximal tibial anlage and a functional quadriceps mechanism. In type Ia deformity, the proximal
tibial anlage is absent and knee disarticulation with prosthesis is
recommended. In types Ib and II, the tibial anlage is present and
the management consists of an early Syme amputation, followed
later by synostosisof the fibula with the tibia, and a below-knee
prosthesis.Type III is rare and the principal management is with
Syme amputation and a prosthesis. Type IV deformity is associated with ankle diastasis,which requires stabilization of the ankle
and correction of LLD at a later stase.

Arazi M, Ogun TC, Memik R: Normal developmentof the tibiofemoral angle

in children: A clinical study of 590 normal subjectsfrom 3 to 17 years of
age.J Pediatr Orthop 2001,;21:264-267.
Cahuzac JP, Vardon D, Sales de Gauzy J: Development of the clinical
tibiofemoral angle in normal adolescents:A study of 427 normal subjects
from 10 to 16 yearsol age.J Bone Joint Surg Br 7995;77:729-732.

A discrepancyin the leg lengths may result from a variety of congenital or acquired conditions (Table 675-L)' and while up to
1S'/" of th" American public may have a difference of >1 cm' only
a small percentage have more than a 2-cm difference. The main
cottseqnittce is gait asymmetry. An increase in vertical pelvic
motion is observed, and more energy must be expended during
ambulation. While a small compensatory lumbar curvature may
develop, there is little evidence to suggest that leg-length discrepancy results in back pain, structural scoliosis,.or degenera-tive arthritis. The goal of treatment is to have a discrepancy of
<2-2.5 cm at skeletal maturitn and a variety of treatment
methods are available to achievethis objective. Knowledge of the

treated as well.

2792r PARTXXXI I BoneandJointDisorders

CONGE}IITAI
OU5E5
Defedrin growth
Proximal
femoral
focal
deficiency
pseudarthrosh
[ongenital
ofthetibia
(Fig.
Fibular
hemimelia
675-8)
Bone
tunor/disease
Skeletal
dysplasia
Multiple
hereditary
exostoses
Neurofibromatosis
(0llier
Enchondromatosis
disease)
0steogenesis
imperfecta
Vascular
Klippel-lrenaunay-Weber
syndrome
Rusell-Silver
syndrome
Miscellaneous
(ongenital
coxa
vara
Proteus
syndrome
ACQUIRED
CAUSES
Tnuma
0veniding
fractures
Epiphyseal
fractures
plate
withgrowth
damage
lhvelopmental
Developmental
dysplasia
ofthehip
Neoplastic
Malignant
tumo6
Tumors
a(ross
epiphysis
l{eurologkal
Myelodysplasia
palsy
Cerebral
Infections/inllammatory
Septic
arthritis
ofhip
0neomyelilis
Rheumatoid
arthritis
Mirellaneous
Acquired
coxa
vara
pelvi(
Fixed
0bliquity
in5(0liosis

inequality. Once a discrepancy is quantified, it must be followed

intervals. Assessments^t 6- to 12-mo intervals are most
::frf,ti:
RADIOGBAPHIC
EVALUATI0N.
The radiologic evaluation complements the clinical examination; both are typically employed when
making treatment decisions.The same technique should be used
longitudinally to maximize accuracy. Four different techniques
are available. The teleoroenrgenogram is a single exposure of
both lower extremities (standing) and requires a long cassette.A
ruler is placed on the film, and direct measurements are made,
factoring in a 67" magnification error. One advantage is that
angular deformities may be assessed.Its primary indication is for
young children. The orthoroentgenogram consists of three separate exposures of the hips, knees, and ankles on a long cassette.
The patient is supine, and a ruler is placed on the casserrefor
measurement of bone length. There is no magnification error.
However, the patient must lie still for the three exposures,which
is often difficult to achieve in younger children. The scanogram
also consists of separateexposures of the hips, knees, and ankles
on a cassettewith a radiographic ruler; however, a small film cassette is used (Fig. 675-2\. There is no magnificarion error;
however, patients must remain still for the three exposures, and
angular deformities cannot be assessed.While CT is rhe most
accurate technique, the assessmentis time-consuming, and the
technique is not available in most centers. In addition ro quanrifying the discrepancn it is essentialto determine skeletal age (bone
age). An anteroposterior radiograph of the hand and wrist is
usually obtained at each visit and compared with the standards in
the Greulich and Pyle Atlas in order to esrimareskeletalage. While
more accurate techniquesare available, most are time-consuming
and impractical for routine clinical applicarion. The range of variability using the atlas is approximately 9 mo, so the merhod is
most accurate when multiple data points have been collected.
TBEATMENT.Options for treatment include observation, a
shoe lift or custom orthosis, a limb shortening procedure (acute
shortening versus gradual shortening by growth arrest), a limblengthening procedure, or a combination of these. In the congenital deficiencies(femur, tibia, fibula), an early foot amputation
is often the best option to manage a severepredicted discrepancy

(apparent shortening),or to a combinarion of rhese.Other con-

are placed under the short leg unril rhe pelvisis leveled(Fig.6751). An alternatemerhod is to measurethe length of each leg wirh
the patient supine. A tape measure is used, and the diitance
between the anterior superior iliac spine and the medial malleolus is measured.Thesemerhodsshould be reasonablyaccuratein
the absenceof "apparent" causesof discrepancy.In addition to
using one or both of rhese methods, the range of motion at the
hip, knee, and ankle must be assessed
to identify any causesof
apparentdiscrepancy.A 10-degreefixed abduction (or'adduction)
contractureof the hip will createan apparenrleg-lengthdiscrepancy of 2-3 cm. Similarly, a flexion conrracture of the hip and/or
knee will creare apparent shortening of the extremity, while an
equinus contracture at the ankle will create apparent lengthening
of the extremity. A rigid lumbar scoliosis (suprapelvic iontr".-ture) will create pelvic obliquity and an associated limb length

L i g u r e 6 7 . 5 - 1 .E x a m i n a t i o nwith blocks under short leg until the pelvis is

squared

Chaptel675 I Leg-lengthDisclepancyr 279:l

and achieve the best functional outcome. In addition to the magnitude of discrepancy predicted at skeletal maturity both the
anticipated adult height of the patient (estimated from family
mem6ers) and the desiresof the patient and his or her family are
important considerations. General guidelines for treatment are as
follows.

trve treatment.

Approximately 65% of the growth of the lower extremity comes

from the distal femur (37"/",9 mm/yr) and proximal tibra (28"/",
Figure 675-2. Scanogramto demonstrateexact leg-lengthdiscrepancy

Anderson method, the Moseley straight-line graph, and the multiplier method (Figs. 675-3, 675-4, and 675-5). The most

Growth Remaining in Normal Distal Femur and Proximal Tibia

Following Consecutive Skeletal Age Levels
Meansand standarddeviationsderivedfrom
longitudinalseries50 girlsand 50 boys

CM

7
6
5
4
3
2
1

2|&
lll
0

\'..''l
\\
0

11-11-57 The Children's Medical Center. Boston. Massachusetts

Figure 675-3. Growth remaining charts for girls and boys. The growth remaining charts for girls and boys are different. Actual correction is basedon growth
(Redrawn
of rhe short limb. To usethe chari correctln the discrepancyat maiority and the percentageof growth retardationof the short limb should be calculated.
from Anderson M, Green !UT, Messner MB: Growth and predictions of growth in lower extremities. J Bone Joint Surg Am 1963;45:14,1

2794r PART)fiXl r BoneandJointDisorders

Figure67-5-4.The Moseleystraight-linegraph
for the assessmentof leg-length inequalities.
This allows simultaneouscorrelation of the
normal leg, short leg, and bone age of the
child. It will accuratelypredict lengthsof each
extremity at skeletal maturity. The reference
slopesare usedas a guide in determiningwhen
appropriate treatment should be performed.
(From Moseley CF: A straight-linegraph for
legJengthdiscrepancies.
/ BoneJoint Surg Am
1 . 9 7 7 : 5 9 : 14.-71 7 9 . \

common surgicaltechniqueis the percutaneousepiphysiodesis,

in
which the physis is ablated with a drill and cuiet under image
intensification.This is an outparienr procedurewith few complications.Insertionof screwsacrossthe physisis an alternative.For
patients for whom sufficient data are unavailable or those for

described), given the increased risk of complications (compartment syndrome, neurovascularproblems)associatedwith shorte n i n go f t h e t i b i a a n d 6 b u l a .
For discrepancies>5 cm, lengthening of the short limb is the
procedure of choice. An exception would be a discrepancy secondary to overgrowth of one limb, in which limb shortening
would be preferred in order to preserve body proportions.
Patients with anticipated discrepancies greater than 8-10cm
often require one or more limb-lengthening procedures (several
years apart) with or without an epiphysiodesis. The most
common technique used for limb lengthening involves placement
of an external fixator, either a ring fixator such as the Ilizarov
device or a monolateral device (Fig.675-61. The bone is cut at
the metaphyseal-diaphysealjunction, and lengthening is achieved

r 2795
Discrepancy
675 I Leg-Length
Chapter

LLD Prediction
Formulas

Multipliertor Boysand Girls

(Paley,et al 1999)
Girls

Boys

Multiplier

Age

0
o.4
1
t*igurc 67.5--5.Paley multiplier This is a simple
method of derermining the leg-lengthdiscrepancy
(LLD) at maturation. This is applicablefor shortening conditions in which growth retardation is
consistent.(From PaleyD, BhaveA, HerzenbergJE,
Bowen JR: Multiplier methods for predicting limblength discrepancy. J Bone Joint Surg Am
2000:82:7432-1446.)

t.\t

2
3
4
6
7
8
9
10
11
12
13
14
15
16
17
18

5.08
4.01
3.24
2.99
2.59
2.23
2.00
1.83
1.68
1.57
1.47
1.38
1.31
1.24
1.18
1.12
1.O7
103
1.01
1.00
1.00

gradually through distraction at the corticotomy. The usual rate

of lengthening is 1 mm/day, and it takes approximately 1 mo in
the fixator for each centimeter of length gained. A maximum of
I5-25% of the original length of the bone may be gained at each
session. An advantage of the circular fixator is the ability to
correct coexisting angular deformities at the same time. Complications include pin tract infection (most common), wound infec-

0
0.3
1
I

3.3
4
5
o

7
I
I
10
11
tz
to

14
15
16

Prenatal LLD (congenital)

Am=AxM

4.63
4.01
2.97
2.39
2.05
2.00
1.83
1.66
1.53
1.43
1.33
1.26
1.19
1.13
1.07
1.03
1.00
1.00
1.00

Postnatal LLD (developmental)

Am=A+lxG
lnhibition=l:1

C-e.

i_i.
:
Growthremaining G = L(M - 1)
Am : LLD at maturity
A : CurrentLLD
L & S = Currentlengthof long and
short leg
L'& S' = Lengthof long and short
leg at any other date since
LLD began

tion, hypertension, joint subluxation, muscle contracture' premature ionsolidation, delayed union, implant-related problems,
and fractures after implant removal. Finalln early amputation
and prosthetic fitting may provide the best long-term function in
patients with projected discrepanciesin excessof 18-20 cm, espe
cially when tliere are coexisting deformities or deficiencipsof the
ipsilateral foot (Figs. 675-7 and 675-8). The atternative would be

'u,
*F
.

Figure 675-6. Ilizarov devicedemonstratingbone lengtheningby distraction

osteogenesrs

Figtre 675-7. Extension prosthesisleg-lengthdiscrepancy(A/ and compen

satedwith extensionprosthesis1Bl.

2796I PABIXXXI r BoneandJoint Disorders

NORMAT
DEVETOPMEIIT
OFKNEE
The knee is a major synovialjoint and developsbetweenthe 3rd
and 4th fetal mo. The secondarycentersof ossificationare formed
berweenthe 5th and 9th fetal mo for the distal femur and berween
the 8th fetal mo and the 1st postnatalmo for the upper tibia. The
patellar ossificationcenter appearsbefweenthe 2nd and 4th yr
in girls and the 3rd and 5th yr in boys.

NORMAT
RANGE
OFMOTION

Figure 675-8. Anteroposrerior radiograph of fibular hemimelia with leglength discrepancy.

multiple reconstructiveproceduresthroughout childhood and

adolescence.
The impact of multiple procedureson the child's
psychosocialdevelopmentmust also be kept in mind when formulating the treatment plan in thesecomplex cases.

Anderson M, Messner M, Green W: Distribution of lengths of the normal

femur and tibia in children from one to eighteen years of age.J Bone loint
Surg 7964i46:1 197-1202.
Beumer A, Lampe HI, Swierstra BA, et al: The straight line graph in limb
length inequaliry: A new design based on 182 Dutch children. Acta Orthop
Scand 1997;68:355-350.
Coppola C, Maffulli N: Limb shortening for the management of leg length
discrepancy.J R CoU Surg Edinb 1999;44:46-54.
Gabriel KR, Crawford AH, Roy DR, True MS: Percutaneousepiphysiodesis.
J Pediatr Orthop 7994;74:358-362.
Gruefich W'W, Pyle SI: Radiographic Atlas of Skeletal Deuelopment of
the Hand and Wrist,2nd ed. Stanford, CA, Stanford University press.
1959.
Horton GA, Olney BW: Epiphysiodesisof the lower extremity: Results of the
percutaneous technique. J Pedian Orthop 1,996;16:180-182.
Linle DG, Nigo L, Aiona MD: Deficienciesof current methods for the timing
of epiphysiodesis.J Pediatr Orthop 7996;76:t73-t79.
Menelaus MB: Correction of leg length discrepancy by epiphyseal arrest. ,f
Bone Joint Surg Br 7996;48:336-339.
Moseley CF: Leg length discrepancy.In Morrissey R! Weinstein SL (editors):
Louell and Winter's Pediatric Orthopaedics. philadelphia, Lippincon
rD7illiams
& u7ilkins, 2000, pp 1 105-1150.
Paley D, Bhave A, Herzenberg JE, Bowen JR: Multiplier method for
predicting limbJength discrepancy. J Bone Joint Surg Am 2000;82:
1,432-r446.
Pritchett JV: Comparison of methods for prediction of lower-extremity
growth.,f Bone Joint Surg Am 2001;83:1108-1110.
Stanitski DF: LimbJength inequality: Assessmentand treatment options.,f Azz
Acad Orthop Surg 1999;7:743-1,53.
Stanitski DF, Bullard M, Armstrong P, Stanitski CL: Results of femoral
lengthening using the Ilizarov technique. J Pediatr Orthop l995ilS:
224-231.
tf0esthRN, Menelaus MB: A simple calculation for the timing of epiphyseal
arrest: A further report. J Bone Joint Surg Br 7987;63:l17-1J9.

The fully extendedknee is normally in the neutral position. The

normal range of motion extends from neutral to about 140
degreeswith most activitiesperformedin the flexion arc of 0-70
degrees.Hyperextensionof up to 10-15 degreesis considered
normal in a child.
The kneeis the largestloint in the body and is a modified hinge
type of synovialioint that also permits someelementof rotation.
It consistsof three joints mergedinto one; an intermediateone
berweenthe patella and the femur, and lareral and medial ones
berweenthe femoral and dbial condyles.The distal femur is cam
shaped,allowing it to havea gliding,hingedmotion. The major
constraintsof the knee are the medial and lateral collateral ligaments, the anterior and posterior cruciate ligaments, and the
medial and lateral menisci. There are severalbursae about the
knee becausemost tendons around the knee run parallel to
the bonesand pull lengthwiseacrossthe knee loint.
Knee pain is one of the most common presentingcomplaints
in older children and adolescents.This is commonly related to
trauma but may also be insidiousin onset.Knee effusion may be
a common feature associatedwith knee pain. Dependingon the
etiology of the intra-articular process,the fluid collectedin the
knee may be blood (trauma- or hemophilia-inducedhemarthrosis),inflammatoryfluid (juvenilerheumatoidarthritis),or purulent material (septicarthritis). The presenceof fat globulesin the
blood aspiratedfrom a hemarthrosissuggestsan occult fracture.
Recurrenteffusionsmay indicate a chronic internal derangement
such as a meniscaltear.Aspiration of the ioint fluid is often necessaryto establishthe diagnosisas well as to offer relief of symptoms (seeChapter584).

PEDIATRIC
K]IIEE
DISOBDERS

o Drscoro
676.1
lnrenmMeruscus
Discoid lateral meniscus (DLM) is an anatomic variation of the
Iateral meniscus that may be asymptomatic or may cause snapping or popping of the knee. There are three types of DLM. The
first is the Wrisberg ligament type where the lateral meniscus has
no attachment to the tibial plateau posteriorlS but has a meniscofemoral ligament or ligament of $Trisberg that connects the
posterior horn of the lateral meniscus to the lateral surface of

the center of the joint and has normal peripheral attachments.

The third type is the incomplete type, which is smaller than the
complete type and does not fill the lateral compartment.

676I TheKneer 2797

Ghapter
The cause of discoid meniscus is not defined, but may be a
failure of an embryologic sequenceof degeneration of the center
of the meniscus. The normal meniscus is attached around its
periphery and glides anteriorly and posteriorly with knee motion,
but a discoid meniscus is less mobile and may be torn. Occasionally, there is no peripheral attachment around the posterolateral aspect of the meniscus, which may allow it to become
displaced anteriorly with knee flexion, producing a loud click or
clunk.
The usual presenting complaint is that of a popping or snapping of the knee that is both heard and felt by the child or parent.
This is often noted in children older than the age of 5 yr. Most
often the snapping is not painful and the child is active. A second
type of presentation is of a child who has had no knee symptoms
but presents spontaneously or after an injury with pain, snapping, popping, or locking located along the lateral ioint line.
Physical examination may show a mild effusion and tenderness
with fullness over the lateral joint line and crepitation with
motion. The typical findings include a palpable snapping as the
knee flexes and extends. Along the lateral loint line, the examiner feels a bulge, as the meniscus seemsto protrude beyond the
margin of the tibia. As the knee moves, the meniscus snaps into
the intercondylar notch and the bulge disappears.
Anteroposterior radiography of the knee may show widening
of the lateral aspect of the knee joint. Other findings include flattening of the lateral femoral condyle (giving a squared off appearance) and cupping of the lateral aspect of the tibial plateau. MRI
or arthroscopy is required for definitive diagnosis.
Many children with discoid menisci require no treatTREATMENT.
ment. These children should be followed and treated only if pain
or loss of motion occurs. Surgery may be considered when DLM
leads to locking, swelling, loss of motion, inability to run, or
inability to participate in sports. The treatment is to exctse tears
and reshape the meniscus arthroscopically (Fig. 576-tl. Meniscal
instability can occasionally be repaired or reconstructed.
Complete excision may be necessary if other procedures are
unsuccessful.

gelatinousmaterialthat developin the poplitealfossa,areusually

isymptomatic,and are not relatedto intra-articularpathology.
resolutionusuallyoccurs'althoughthe processcan
Sponianeous

The massis mostpromiand usuallydistalto the poplitealcrease.

nent when the knee is extendedand the patient is lying in prone
^DOSrtlOn.
The most common site of origin is the bursa of the gastrocnemius and semimembranosus.Another common site of origin is a

osteochondromas, osteochondritis dissecans,and malignancies.

The diagnosis may be confirmed by ultrasonography (to- differentiate ; solid mass from a cystic lesion) or aspiration. In most
cases,these cysts should be left alone, as they often resolvespontaneously. Surgical excision of a popliteal cy-stis indicated only
when symptoms are severe and limiting and- have not resolved
after several months. The presence of a solid mass detected on
examination or MRI indicates exploration.

DlssrcRrus
676.3o 0srEocH0NDRlrls
occurswhen an areaof boneadjacent
dissecans
Osteochondritis

CYST
616.2o PoPurEAt
Popliteal cysts (Baker cyst) are commonly seen in children and
are different than in adults. They are cystic masses filled with

with varying degreesof ischemiaand fibrosis of the overlying

hyalinecartilage.

Figure 676-1. Arthroscopic image of discoid meniscusand arthroscopicshavingwith meniscectomy.

2798r PARTXXXIr BoneandJointDisorders

wires or pins. StageIV lesions, if small, are managed by excision,

operative activity levels. Treating osteochondritis dissecansearly

and effectively often prevents recurrent symptoms in adulthood,
although some very severe lesions may be symptomatic later in
Iife.

o 0scooD-SctrurreR
676.4
DlseRsr
This condition is characterized by pain over the tibial tubercle in
a growing child. The patellar tendon inserts into the tibia tuber-

figurc (--6-1

C l a s s i c a r t h r o s c o p i c i m a g e o f o s t e o c h o n d r i t i s d i s s e c a n sl e s i o n

CtINICALMANIFESTATI0NS
AND 0lAGN0SlS.The most common
presentingcomplaint is vagueknee pain. If the fragment becomes
loose,.therewill be crepitation, popping, giving way, and occasionally locking of the knee with or withoura mild effusion.phvsical findings are minimal and may include parapateliar
tenderness.,
quadriceps atrophy, and slight pain with ringe of
motion. The Wilson tesr is noted to be a specificdiagnosticlign.
It is performed by flexing the knee to 90 degrees,fully rotating
rhe tibia medially, and then gradually extending the knee. \7hei
the test is positive, there is pain at 30 degreesof flexion that is
located over rhe medial femoral condyle anteriorly.
The lesion is usually noted on anteroposterior,lateral, and
tunnel radiographs(notch view) of the knee.Early lesionspresent
with a small radiolucency at the articular surface, whili more
advancedlesionshave a well-demarcatedsegmentof subchondral
bone with a lucent line separaringit from the condyle. In young
children, small foci of ossificationmay appear beyond the margii
of the main ossific nucleus. As revasculirization occurs, the bJne
heals spontaneously.With increasingage, the risk increasesfor
artic.ular cartllage fracture and separation of rhe bony fragment,
producing a loose body.
CT delineatesrhe exrenr and location of the lesion including
the degree_of detachmenr. MRI is helpful in determining th!
integrity of the articular cartilage and stability of the lesion.
Arthroscopy is the most reliable method of evaluarins the status
of the lesion (Fig. 676-2). Factors commonly associited with a
good prognoslsare younger age group, small lesion,non_weight_
bearing location, and no displacement. Four stagei are invoi-ved
with the progressionof osteochondritisdissecans.
StaeeI consists
of a small area of subchondral compression;stageIiconsists of
a.partially detachedfragment; in stage III, the fragment is completely detached but remains in the crater; and by stage IV, the
f r a g m e n ri s l o o s ei n t h e i o i n r .
initial managementof osteochondritisdissecans
open growrh plates includes observation with
restrictions to allow the symptoms to resolve.
Most stablelesionsheal spontaneouslyouet ieve."l months. Stage
I and II lesions are managed with activity modification, isomeiric exercises,and a knee immobilizer. Healine can be confirmed
by follow-up radiographs,ar which point rhe patrent can return
to. normai activity levels. Arthroscopy is indicated in patients in
whom nonoperative treatment fails ;d in those with signs,symptoms, and other studies suggestiveof an unstable lesioi. StageIiI
lesions are managed by drilling and stabilization with Kirs&ner

betweenthe agesof 10 and 15 yr; the onser in girls is about 2 yr

before that in boys. It is more common in males.
This disorder is self-limited in mosr patients and resolveswith
skeletal maruriry. Pain directly over the tibial tubercle is the usual
complaint, and swelling over the tubercle is often of concern. The
pain is aggravated by activities but often persists even at rest.
Physical examination reveals point tenderness over the tibial
tubercle and the distal portion of the patellar tendon. There is
often increasedprominence of the tibia tubercle that is also firm.
Radiographs are usually the only diagnostic studies necessary
\Fig. 676-3\. Fragmenraryossificationof the tibial ruberclemay
be noted in some cases,which is often a normal variant. Some
casesmay be associatedwith patella alta.
Rest, restriction of activities, and, occasionallS a knee immobilizer may be necessarn combined with an isomerric and flexibility exercise program. Reassurance is importanr, as some

Figurc676-3. Lateralradiographof the kneedemonsrraringapophysitisof the

tibial tuberclein Osgood-Schlatterdisease.

Ghapter676 r TheKnee r 2799

patients and parents fear that the swollen tubercle may be a sign
of malignancy. Complete resolution of symptoms through physiologic healing (physeal closure) of the tibia tubercle may require
12-24 mo. Removal of ossicles from the tubercle may rarely
be necessary in patients with persistent disabling symptoms.
Complications are rare, and include early closure of the tibial
tubercle with recurvatum deformity and rarely patellar tendon
rupture or avulsion of the tibial tubercle.

DISORDERS
PATEIIOFEMORAt
Patellofemoral joint stability depends on balance among the
restraining ligaments, muscle forces, and the articular anatomy
of the patellofemoral groove. The multiple factors that contribute
to patellofemoral instability include quadriceps insufficiency,
internal femoral torsion, external tibial torsion, the shallow
sulcus, lateral tether, medial capsular attenuation, condylar
hypoplasia, and genu valgum.
The patella has a V-shaped bottom that guides it through the
sulcus in the distal femur. The force of the muscles pulling
through the quadriceps mechanism and the patellar tendon does
not act in a straight line becausethe patellar tendon inclines in a
slightly lateral direction with respectto the line of the quadriceps.
This is normally called the Q angle. This lateral movement,
coupled with the movement of the restraining ligaments, tends to
move the patella in a lateral direction. The vastus medialis muscle
is necessaryto counteract the laterally acting forces. An abnormality of any one or a group of these factors can make the
patellofemoral joint function abnormally. Excessiveinstability of
the patellofemoral joint may manifest as acute patellar dislocation, recurrent patellar subluxation or dislocation, habitual dislocation, and chronic dislocation.

strengthening exercises(isometric quadriceps)' contrast therapies

(ice and heat), orthoses, and medications (nonsteroidal antiinflammatory drugs). A success rate of 70-90% can be anticipated. Arthroscopic evaluation of the knee and patellofemoral
joint is rarely necessary.

o PRreu.nR
Suslu loNANDDlslocnnont
676.6
Recurrent patellar dislocation is defined as more than one episode
of dislocation of the patella documented by an observer or clearly
described by the patiint. Recurrent patellar subluxation is poorly
defined but alludes to more than one episode of patellar subluxation without frank dislocation. Habitual dislocation of the
oatella is defined as a dislocation that occurs every time that the
knee is flexed, while a chronic dislocation of the patella is one
that never reduces throughout the arc of motion of the knee.
Traumatic patellar subluxation and dislocation can occur as a
result of a direct trauma. Habitual subluxation or dislocation is
usually due to a dysplastic knee with contracture of the lateral
portion of the quadriceps mechanism. In this case' the patella displaces laterally whenever the knee is flexed. The most common
etiologic factor in recurrent patellar dislocation is Iateral
malalignment of the quadriceps mechanism. A number of syndromei are associatedwith patellar instability, including Down
syndrome, Turner syndrome, Kabuki make-up syndrome, and
Ru binstein-Taybi syndrome.

CtlNlCAt MANIFESTATI0NSAND DIAGN0SIS. Symptoms are

usually produced by vigorous physical activities such as running.
There is usually no history of antecedent trauma. There are no
mechanical symptoms associatedsuch as locking, giving wa5 or
recurrent effusion.
Active and passive range of motion of the knee, alignment of
the lower extremitn knee stability, patellar tracking, areas of
focal tenderness, and gait should be evaluated to identify any
obvious causesof knee pain or instability. Routine radiographs,
including anteroposterior, lateral, and tunnel views, are not particularly helpful in evaluating the cause of adolescent anterior
knee pain, except that they may eliminate other etiologies. In the
adolescentgroup, radiographs of the hip should be considered in
suspectedcasesto rule out a slipped capital femoral epiphysis that
can present as ill-defined knee pain.

ANO DIAGNOSIS.The physical examiCtlNlCAt MAiIIFESTATI0NS

nation findings usually suggestthe diagnosis' After an acute dislocation, there may be a hemarthrosis from capsular tearing
or an osteochondral fracture. If the child is seen after a recent
dislocation, there may be parapatellar tenderness and a mild
effusion.
Examination of a child with a maltracking patella that is predisposed to dislocation may often show terminal subluxation of
the patella when the knee is brought into full extension. There
-"y b. tendernessto palpation over the inferior surface of the
lateral facet of the patella. Observe the tracking of the patella as
the oatient is allowed to flex the knee from full extension. In the
pati;nt with instabilitg the patella will shift laterally iust-as the
knee begins to flex and will then shift medially with further
flexion. This lateral displacement of the patella followed by
medial movement is termed / tracking. The other classic physical
sign is the Fairbanks apprehension sign' \Xlith the knee in 30
degrees of flexion, the examiner manually displaces the patella
latirally and yields a subjective feeling of subluxation, resulting
rn the patient grabbing the examiner's hand to prevent manipulative dislocation.
It is important to assessthe torsional profile of the patient to
rule out pbssible rotational abnormalities of the femur or tibia or
both.
Radiographic studies may help identify factors contributing to
rec,rrretti diilocation of the patella or after an acute dislocation.
They should include anteroposterior, lateral, and skyline ta-ngential views (obtained in full flexion) of the patella to assessfor an
osteochondral fracture from the lateral femoral condyle or the
patella. Other views include the MacNab view (obtained with the
knee in 40 degreesof flexion), which shows the relationship.of
the oatella to the anterior part of the femoral intercondylar
groou. and may also demonslrate loose bodies and fractures of
ihe patella or lateral condyle; the Merchant view obtained with
the knee in 45 degreesof flexion; and the Laurin view with the
knee in 20 degreesof flexron.

The natural history of anterior knee pain is one of

TREATMENT.
spontaneous resolution over a period of years. The treatment is
predominantly nonoperative and may include flexibility exercises,

An initial traumatic dislocation of the patella should

TREATMENT.
be treated with a knee immobilizer for comfort. After a few days,
the patient should begin isometric quadriceps-strengthening

ADOLESCENT
AilTERIOR
KNEE
676.5o IDIOPATHIC

Pnrn
Svnonomr
Previously known as chondromalacia patella, idiopathic adolescent anterior knee pain syndrome is a common disorder that presents as knee pain. The term was initially used to describe a
deranged patellar articular surface. It is common in adolescent
girls, is often activiry related and poorly localized, and may cause
disability. Evidence suggeststhat the articular surface is actually
normal. The cause of the knee pain, which commonly occurs in
early adolescence,is unknown. A patient with unexplained pain
in the anterior knee poses a diagnostic and therapeutic challenge
to the orthopedic surgeon.

28m I PARIXXXI I BoneandJoint Disorders

exercises,and more vigorous strengthening exercisescan be done
as the tenderness resolves. Once the immobilization is discontinued (approximately 6 wk), the isometric exercise program
should be continued until rhe knee is fully rehabilitated. Using
this method, approximately 75% of patients do not have recurrent dislocarions.

patellar restraint. Realignment of the extensor mechanism may

be accomplished by altering the muscle itself, changing its inseition into the patella, or altering the attachment of the patella to
the tibia. Depending on the extent of involvement, an arthroscopic lateral releasewith or without a soft-tissuereconstruction
with a realignment procedure may be performed. Torsional
abnormalities of the femur or tibia may be addressedwith rotational osteotomy of the distal femur or proximal tibia, or rarely
both as deemed necessary.

Ahn JH, ShimJS,Hwang CH, et al: Discoid lareralmeniscusin children:Clinical manifesrations and morphology. J Pediatr Orthop 2001;21:812-81,6.
BensahelH, SouchetP, PennecotGF, et al: The unstablepatella in children. /
Pediatr O r t h op 2000;9:265-27 0
Davids JR: Pediatric knee: Clinical assessmenrand common disorders.pediatr
Clin North Am 1996;43:1067-1090.
Ganley TJ, Kolze EA, Gregg JR: Pediatric sports medicine. In Dormans Jp
(editor): Pediatric Orthopedics: Core Knotuledge in Ortbopedics. philadelp h i a , M o s b y ,2 0 0 5 , p p 1 3 8 - 1 5 8 .
Ganley TJ, Lou JE, Pryor K, Gregg JR: Sports medicine. In Dormans Jp
(editor): Pediatric Orthopedics and SportsMedicine: The Requisitesin pediatrics. Phlladelphia, Mosby, 2004, pp 273-298.
Hamer AJ: Pain in the hip and knee. Br Med J 20O4;328:1,067-7069.
Herring JA: Disorders of the knee. In Herring JA (editor): Tachdjian'spediatric Orthopedics,3rd ed. Philadelphia,WB Saunders,2002, pp 789-837.
Kocher MS, DiCanzio J, Zurakowski D, et al: Diagnosticperformanceof clinical examination and selecrivemagnetic resonanceimaging in the evaluation of intraarticularkneedisordersin children and adolescents.
Am I SDorts
Med 2001729:292-299.
StanitskiCL: Instructionalcourselecture:Anterior knee oain syndromesin the
a d o l e s c e nIt B o n eJ o i n t S u r gA m l g g j i 7 5 . 1 4 0 7 - 1 4 l ' 6 .
VahasarjaV, Kinnunen P, Lanning P, et al: Operative realignmentof patellar
malalignmentin children.J Pediatr Orthop 1995;15:281-285.
Van Rhiin LW, JansenEJ, Pruijs HE: Long-term follow-up of conservatively
treated popliteal cystsin children.J Pediatr Orthop 2000;9:62-64.

socket ioint between the femoral head and acetabulum. The

femoral head and acetabulum are closely related and thus are very
much dependent on one another for their necessary development
and growth.

GROWTH
ANDDEVETOPMENT
The hip joint begins to develop at about the 7th wk of gestation,
when a cleft appears in the mesenchyme of the primitive limb
bud. These precartilaginous cells differentiate into a fully formed
cartilaginous femoral head and acetabulum by the 11th wk of
gestation. At birth, the neonatal acetabulum is completely composed of cartilage, with a thin rim of fibrocartilage called the
labrum.
The very cellular hyaline cartilage of the acetabulum is continuous with the triradiate carrilages,which divide and interconnect the three osseous components of the pelvis (the ilium,
ischium, pubis). The concave shape of the hip joint is determined
by the presenceof a spherical femoral head.
Several factors determine acetabular depth, including interstitial growth within the acetabular cartilage, appositional growth
under the perichondrium, and growth of adjacent bones (the
ilium, ischium, pubis). In the neonate, the entire proximal femur
is a cartilaginous strucrure in the shape of a femoral head and
greater and lesser trochanters. The three main growth areas are
the physeal plate, the growth plate of the greater trochanter, and
the femoral neck isthmus. Between the 4th and 7th mo of life.
the proximal femoral ossification center (in the center of the
femoral head) appears. This ossification center conrrnues to
enlarge, along with its cartilaginous anlage, until adult life, when
only a thin layer of articular cartilage remains. During the period
of growth, the thickness of the cartilage surrounding this bony
nucleus gradually decreases,as does the thickness of the acetabular cartilage. The growth of the proximal femur is affected by
muscle pull, the forces transmitted across the hip joint by weight
bearing, normal joint nutrition, circulation, and muscle tone.
Alterations in these factors may causeprofound changesin development of the proximal femur.

VASCUTAR
SUPPTY

(extraosseous)lie on the surfaceof the femoral neck but are intracapsular becausethey enter the epiphysis from the periphery. This
makes the blood supply vulnerable ro damage from septic arthritis, trauma, thrombosis, and other vascular insults.

677.1o DevrrcpnaenTAr
Dyspt-AstA
0FTHEHtp
DDH is a spectrum of abnormalities involving the growing hip.
Acetabular dysplasia,on the other hand, refers to abnormal morphology and development of the acerabulum. Hip subluxation is
defined as partial contact between the femoral head and acetabulum, whereas dislocation refers to a hip with no contact between
the articulating surfacesof the hip. Theipectrum of presentations
of DDH ranges from simple acetabular dysplasia (the femoral
head may be retained within an inadequate acetabulum) ro
acetabular dysplasia plus subluxation (the femoral head moves
slightly away from the acetabular medial wall) to dislocation of
the hip joint (a complete loss of contact berween the femoral head
and acetabulum).

ChaPter677 r TheHiP r 2801

Posteriorascending
cervicalarteries

Branches
to
gluteal
superior
Lateralascending
cervical arteries

Medialascending

cervicalarteries
Branches
to
obturator
externus
muscre

FEMORALNECK

Medial
circumflex
femoral

Anteriorascending
cervicalarteries

anery
MUSCLE
ILIOPSOAS
Femoral
artery

femoral
Profundus
artery

femoral
Lateralcircumflex
artery

Figure 677-1. Diagrammaticillustration of vascularanatomy of the proximal femur.

Developmental dysplasiaof the hip (DDH) is classifiedinto two

major groups: typical and teratologic. Typical DDH occurs in
otherwise normal individuals or those without defined syndromes
or genetic conditions. Teratologic hip dislocations usually have
identifiable causesand occur before birth.

ANDRISK
FAGTORS
INCIDENCE,
ETIOTOGY.
Although most newborn screening studies suggest that some
degree of hip instability can be detected in one in 100 to one in
250 babies, actual dislocated or dislocatable hips are much less
frequent, being found in 1-1.5 of 1000 live births. The etiology
of DDH is multifactorial, involving both genetic and intrauterine
environmental factors. There is marked geographic and racial
variation in the incidence of DDH. The reported incidence based
on geography ranges from 1..711.,000babies in Sweden to
7511,000in Yugoslaviato 188.5/1,000in a district in Manitoba,
Canada. The incidence of DDH in Chineseand African newborns
is almost 07o, whereas it is 1% for hip dysplasia and O.to/o for
hip dislocation in white newborns. These differencesmay be due
to environmental factors, such as child-rearing practices, rather
than to genetic predisposition. African and Asian caregivershave
traditionally carried babiesagainst their bodies in a shawl so that
a child's hips are flexed, abducted, and free to move. This keeps
the hips in the optimal position for stability and for dynamic
molding of the developing acetabulum by the cartilaginous
femoral head. On the other hand. children in Native American
and Eastern European cultures, which have a relatively high incidence of DDH, have historically been swaddled in confining
clothes that bring their hips into extension. This position
increasesthe tension of the psoas muscle-tendon unit and may
predisposethe hips to displace and eventually dislocate laterally
and superiorly.

presentation, the rate is 16-25"/" for patients with DDH. Any

condition that leads to a tighter intrauterine space and' consequently, less room for normal fetal motion may be associated
with OOFI. These conditions include oligohydramnios, Iarge
birth weight, and first pregnancy. The high rate of association of
DDH with other intrauterine molding abnormalities, such as torticollis and metatarsus adductus, supports the theory that the

cared for in special care units after birth.

PATHOANATOMY

physician to be aware of thesechangesto successfullytreat DDH.

PRESENTATION
CTINICAL

FORDDH
RISKFACTORS

THE NE0NATE,DDH in the neonate is diagnosed by eliciting the

Ortolani or Barlow sign or from significant changes in the sonographic morphology of the hip. Physical examination must be
irtil.d out with the infant unclothed and placed supine in a

A positive family history for DDH is found in l2-33'h of affected

patients. DDH is more common among female patients (80%).
This is thought to be due to the greater susceptibility of females
to maternal hormones such as relaxin, which increasesligamentous laxity. Although only 2-3"/" of all babies are born in breech

hip will be felt to slide out of the acetabulum' As the examiner

2802r PARTXXXII BoneandJointDisorders

Figure (r77--1.Asymmetry of thigh folds in a child with developmentaldys

plasia of the hip

I"
k

The Barlow's provocative test is performed with the patient,s

f l e r e c l .A , H o l d i n g t h e p a t i e n t ' s l i m b s g e n t l y , w i r h t h e t h i g h i n
exammer applies a posterlorly directed force. B, This test is

a
posrtive in a dislocatable hip

Ortolani maneuvers.Classically,a hip click is differentiated from

a hip "clunk," which is felt as the hip goes in and out of joint.
Hip clicks usually originate in the ligamentum teres or occasronally in the fascia lata or psoas tendon and do not indicate a significant hip abnormality.
THEINFANT.As the baby enters rhe 2nd and 3rd mo of life, other
signs of DDH appear.

relaxesthe proximal push, the hip can be felt to slip back into
the acetabulum.
The Ortolani test is rhe reverseof Barlow test: The examiner

i s p a l p a b l eb u r u s u a l l y n o t a u d i b l e .I t s h o u l d b e a g e n r l e ,n o n forced maneuver.
A hip click is the high-pirchedsensation(or sound) felt at the
very end of abducion during testing for DDH with Barlow and

Shortening of the thigh, the Galeazzi sign, is best appreciated

by placing both hips in 90 degreesof flexion and compiring the
height of rhe knees,looking for asymmetry (Fig. 677-5). Aiymmetry of thigh and gluteal skin folds may be present in I0o/" of
normal infants but is suggestiveof DDH. Another helpful test is
the Klisic test, in which the examiner places the 3rd finger over
the greater trochanter and the index finger of the same hand on
t h e a n t e r i o r s u p e r i o ri l i a c s p i n e .I n a n o r m a l h i p . a n i m a g i n a r y
line drawn between the two fingers points to the umbilicus. In
the dislocated hip, the rrochanter is elevated, and the line projects halfway betweenthe umbilicus and the pubis (Fig. 677-6).
enrs to the
ling gait, or
horter than
the affected
side. The Trendelenburg sign is posirive in these children, and a
Trendelenburggait is usually observed.As in the younger child,
there is limited abduction on the affected side and the knees are
at different levels when the hips are flexed (the Galeazzi sign).
Excessive lordosis, which develops secondary to altered hip
mechanics, is common and is often the presenting complaint.

RADIOGBAPHIC
FINDINGS
infants younger than 6 mo of age, the

u,,rasonograpn,,""oi,'l,T'l%"ffi
fidflTJiTj#ITl[if

anl maneuver rs the sign of the ball of the femoral

f rhe acetabulum. A, The examiner holds the patrent,s
the hip whrle lifting rhe grearer trochanter with two
is positive, the dislocated femoral head will fall back
into the acetabulum wirh a palpable'clunk,as the hip is abducted.

sonography provides dynamic assessmentabout the stability of

the hip joint (Fig. 677-7A and B). The ulrrasound examinaiion
can be used to monitor acetabular development, particularly of
infants in Pavlik harnesstreatment; this meihod can minimize the
number of radiographs taken and may allow the clinician to
detect failure of treatment earlier.

Ghapter677 I The Hip r 2803

DISLOCATED

NORMAL

In a normal hip, an imaginary line drawn down

finger placed on the patient's iliac crest and the
on the patient's greater trochanter should point
located hip, this line drawn through the two fingertipsruns below the umbilicus becausethe greatertrochanteris abnormally
high.

can be interpreted through

Figrre 677-5. Positive Galeazzisign noted in a case of untreated developmental dysplasiaof the hip.

for an infant once

Radiographsare recommended
BADI0GRAPHY.
the proximal femoral epiphysisossifies,usually by 4-6 mo. In
infants this age,the radiographicexaminationhas provento be
more effective,lesscostly,and lessoperatordependentthan an
ultrasoundexamination.An anteroposteriorview of the pelvis

Figure 677-7, Imagesof normal ultrasonography of an infant (A/ and comparisonwith

a caseof developmentaldysplasiaof the hip
(B).

the use of several classic lines drawn

on it (Fig. 677-8A through C).

The Hilgenreiner line is a horizontal line drawn through the
top of both triradiate cartilages (the clear area in the depth of the
acltabulum). The Perkins line, a vertical line through the most
lateral ossified margin of the roof of the acetabulum, is perpendicular to the Hilgenreiner line. The ossific nucleus of the femoral
head should be located in the medial lower quadrant of the intersection of thesetwo lines. The Shenton line is a curved line drawn
from the medial aspect of the femoral neck to the lower border
of the superior pubic ramus. In a child with normal hips, this Iine
is a continuous contour. In a child with DDH, this line consists
of two separatearcs and therefore is described as "broken'" The
acetabulat index is the angle formed between the Hilgenreiner
line and a line drawn from the depth of the acetabular socket to
the most lateral ossified margin of the roof of the acetabulum.
This angle measuresthe development of the osseousroof of the

2fl14r PARTXXXI r BoneandJoint Disorders

Acetabular

acetabulum.In the newborn,the acetabularindex can be up to

40 degrees;by 4 mo in the normal infant, it shouldbe no more
than 30 degrees.In the older child, the center-edgeangle is a
useful measureof hip position. This angleis formed at the juncture of the Perkins line and a line connectingthe lateral margin
of the acetabulumto the centerof the femoral head. In children
5-I3 yr old, an angle>19 degreeshas beenreportedas normal,
while in children 14 yr and older, an angle >25 degreesis considerednormal. Radiographsof the hip in abduction and internal rotationshouldalsobe obtained.astheseviewsshowwhether
the hip is reducible.

TREATMENT
The goalsin the managementof DDH are to obtain and maintain a concentricreductionof the femoral headwithin the acetabulum to provide the optimal environment for the normal
developmentof both the femoral headand acetabulum.The later
the diagnosisof DDH is made, the more difficult it is to achieve
thesegoals, the lesspotential there is for acetabularand proximal femoral remodeling,and the more complex are the required
treatments.
NEWB0RNSANDINFANTSYOUNGER
THAN6 M0NTHS0FAGE.The
diagnosisof DDH ideally should be madein the newborn nursery.
Triple diapers or abduction diapers have no place in the treaiment of DDH in the newborn; they are usually ineffectiveand
give the family a falsesenseof security.The Pavlik harnessis used
for all degreesof hip dysplasiain otherwise normal newborns.
Although other bracesare available(von Rosensplint, Frejka
pillow), the Pavlik harnessremains the most commonly used
deviceworldwide (Fig. 677-91.Infants between1 and 5 mo of
age with hip dysplasia,subluxation,or dislocationare readily
managedwith the Pavlik harness.By maintainingthe Ortolanipositivehip in a Pavlikharnesson a full-time basisfor 5 wk, hip

aluating DDH.
Perkins line is
of the acetabud in the medial
lower quadrant of the intersection of these two lines. Shentont line curves
along the femoral metaphysis and connects smoothly to the inner margin of
the pubis. In a child with DDH, this line consistsof two separatearci and
therefore is described as broken. The acetabular index is the ingle between a
line drawn along the margin of the acetabulum and Hilgenreiner's line; in
normal newborns, it averages27.5 degreesand decreaseswith age.

Figure 677-9. Photograph of a Pavlik harness.

677r TheHiPr 2fl15

Chapter
rarely required. The potential for acetabulardevelopmentafter
closed oi open reduction is excellent and continues for 4-8 yr
after the procedure.
Traction followed by closedor oPenreductionis recommended
by some for treatmeni of older infants with a dislocated-hip.for
which attemptedreduction with the Pavlik harnesshas failed or
for children blder than 9 mo of age.

Maximum
abduction
Figwe 677-10. Diagrammaticillustrationof the safezoneof Ramsey.

instability resolvesin 95o/" of cases.After 5 mo of age, the failure

rate for the Pavlik harness is >50% because it is difficult to maintain the increasingly active and crawling child in the harness. Frequent examinations and readjustments are necessary to ensure
that the harness is applied correctly.
CHIIDREN6 M0NTHS T0 2 YEARS0F AGE. The principal goals in
the treatment of the late-diagnosed patient are to obtain and
maintain reduction of the hip without damaging the femoral
head.
Closed reductions are performed in the operating room under
general anesthesia. The hip is moved to determine the range of
motion in which it remains reduced. This is compared to the
maximal range of motion to construct a "safe zone" (Fig. 67710). An arthrogram obtained at the time of reduction is very

cast is removed and replaced by an abduction orthotic device to

be used on a full-time basis for 2 mo until acetabular development is normal. Failure to obtain a stable hip with a closed reduction indicates the need for an open reduction. In patients younger
than 2yr of age, a secondary acetabular or femoral procedure is

0LDEBTHAN2 YEARS0F AGE'Treatmentof children

CHIIDREN
between2 and 6 yr of agewith hip dislocation is more challenging. In a child older than 2yr of age,open reduction is usually
necessary.
In children older than 3 yr of age,femoral shorteningto avoid
excessivepressureon the Proximal femur givesfar lower rates of
proximal femoral growth disturbancethan doespreliminary traciion followed by open reduction. For children berween2 and
3yr of age,becausethe potentialfor acetabulardevelopmentis
markedly"diminished,a ioncomitant acetabularproceduremay
be neededin conjunctionwith the open reduction. Children older
than 3 yr of age at reductionusuallyneedan acetabularprocedure to'adequitelycoverthe femoralhead.
The most important complicaANDCOMPLICATI0NS.
SEOUEIAE
tion of DDH is avascularnecrosisof the CFE. Reduction of the
femoral head under pressureor in extremeabduction may result
in occlusionof the epiphysealvesselsand produce either panial
or total infarction ol the CFE. Revascularizationsoon follows,
but if the physisis severelydamaged,abnormalgrowth and development tti"y o...t.. The hip, then, is most vulnerableto this compiication before 4-6 mo- when the ossific nucleus develops.
M"rr"g.-.ttt, as previouslyoutlined, is designedto minimize this
complication. Using these various appropriate treatments' the
incidenceof avascularnecrosisfor DDH is reducedto between
5%oarrd15%. Other complicationsin DDH include redislocation, residualsubluxation,acetabulardysplasia,and postoperative complications,including wound infections.

SYt'tovrls
MoNoARTIcULAR
.2. TRANsIENT
617

(ToncSvruovms)

Transientmonoarticular synovitis or toxic synovitis of the hip is

a common causeof limping in a normal child. It is characterized
by acute onset of pain'-limping' and mild restriction of motion,
soecifically abduciion and internal rotation. However, septic
aithritis and ost.o-yelitis of the hip must be excluded before
such a diagnosiscan be confirmed (seeChapters 683 an,d684)'
The cause-of toxic synovitis is uncertain; some possiblecauses
are active or recent systemicviral syndrome' trauma' and allergic hypersensitivity.
ansient monoarticular
most prevalentin chil-

havehad ^1X'$::h:t"ttf"i:"#
children
70%ofallaffected
"

Figwe 677-11. Arthrogram of a reduced hip for evaluating the stabiliry of

reduction.

ratory tract infection 7-"1'4days before the onset oJ symPtoms'

This acute onset of symPtomstypically consistsof pain in the
groin. anteriorthigh, or knee,as well as nontraumaticanterior
ihieh'or knee pairi' which may be referred from the hip' These
child.en are usually ambulatory; the hip is not held flexed,
abducted, or laterally rotated unless a significant effusion is
Dresent.Childr.n wiih transient monoarticular synovitis walk
with a painful, limping gait. In addition, they are often afebrile
or maiitain t 1ot'v-gridi fever below 38"C. Their laboratory
valuesare relatively normal, but on occasiona mild elevationin
the erythrocytesedimentationrate is observed.IJflhilearthrocen-

2806r PART)fiXl r BoneandJoint Disorders

tesis produces normal results, a joint effusion of 1-3 mL is
common.
RADI0GRAPHICEVALUATI0N.Anteroposrerior and Lauenstein
(frog.) lateral radiographs of the pelvii may be acquired and are
usually found to be normal. Ultrasonography of the hip illustrates
a hip joint effusion. Ultrasonography-guided hip joini fluid aspiration may be necessaryto reveal whether a septic hip is presjnt
in some clinical cases. Technetium bone scan or MRI ls also
extremely valuable in ruling out the presenceof certain lesions
including sepric arthritis, rumor, fracture, slipped CFE (SCFE),or
early Legg-Calv6-Perthesdisease (LCPD). Aigh feuer, refusai to
walk, and elevationsof the erythrocyte sedimentation rate, serum
C-reactive protein, and white blood cell counts are high-risk criteria for septic arrhritis.
TREATMENT.
The treatment of transient monoarticular synovitis
of the hip is symptomatic. Recommended therapies include activity limitation and relief of weight bearing until ihe pain subsides.
Anti-inflammatory agents and analgesici may shorten the duration of pain. Most children recover completeiy within 3 wks.

The second mechanism for deformity involves the repair process

itself; the deformity can occur related to the asymmetrii repair
process and the applied srresseson the femoral head.
The third mechanism for deformity is related to the disease
process.The superficial layers of articular cartilage continue to

EPIDEMIOTOGY
The overall incidence of LCPD in the United States is about
1.11,200children. LCPD is more common in boys than in girls by
a ratlo of 4 or 5 to 1. The peak incidence of the diseaseis between
the ages 4 and 8 yr; LCPD has been reported in patients of ages
2-1.2yr. Bilateral involvement may be seen in about 10% of the
patients, but the CFEs are usually in different stagesof collapse.

CTINICAL
PRESENTATION

o LEGG-CAwE-Prnrxrs
677.3
DlseRsr
Legg-Calvd-PerthesDisease(LCPD) is a femoral head disorder of
unknown etiology that involves temporary interruption of the
blood supply to rhe bony nucleus of'the proximal femoral epiphysis,,leading
impairment of the epiphyseal growth a;d
.to
Iemoral neacl detormlty.

often report that symptoms were initiated by a traumaric event.

ETIOLOGY

PHYSICAT
EXAMINATION

The etiology of LCPD remains unknown: Infection, trauma. and

transient synovitis have been proposed but unsubstanriated.
Factors leading to thrombophilia, an increased tendency to
develop thrombosis and hypofibrinolysis, and a reduced tendency
to lyse rhrombi have been identified- Factor V Leiden mutario;,
protein C and S deficiency,.lupus anticoagulant, anticardiolipin
antibodies, antitrypsin., and plasminogen activator may play a
role in the abnormal clotting mechaniJm.
Children with LCPD have delayed skeletal maturation and are
shorter rhan normal. Abnormalities of thyroid hormone and
insulin-like growth factors have been reported. Other associated
factors include hyperactivity or attentio;-deficit disorder, hereditary influences, and environmental influences (including nutrition). Histologic findings in the CFE reveal various ,trg., of borr.
necrosis_andrepair. Two possible pathways for the bone necrosis have been proposed; the vascular changesmay be the primary
event or events or there may be a primary disorder of epiphyseal
cartilage, with resulting collapse and necrosis.
Avascular necrosis of the femoral head, unrelated to LCpD,
may be sporadic but occasionally occurs as an autosomal dominant disorder. Most present as adults, but 1,0-20y, may begin
when younger than 20 yr of age. Familial casesmay be due tJ a
mutation of the type II collagen gene.

Antalgic gait may be particularly prominent after strenuous actlv-

PATHOGENESIS
OFDEFORMIW
The deformity can occur by four mechanisms in LCpD:
A growth disturbance in CFE and physis; a central arrest of the
physis leads to a short neck (coxa breva) and trochanteric overBrowth, whereas a lateral physeal arrest tilts the head externally and into valgus with trochanteric overgrowth.

RADIOGRAPHIC
FINDINGS

677r TheHiPI 2807

Chapter

50% of the head width, and the medial prllar 20-35"/" of the

<50"/oof the pillar heightremarns.

Certainradiographicsigns'known as "atFACTORS.
PR0GN0STIC
with poor results.Theseincludethe
risk signs," are associated
Gagesign,a radiolucencyin the lateralepiphyls and metaphysis,
lateralto the epiphysis,lateralCFEsubluxation,and
caliifica.-tion
a horizontalphysis.

ANDPROGNOSIS
HISTORY
NATURAT

Figtre 677-12. A, Anteroposteriorradiographof the pelvis shows epiphyseal

fragmentationin the right hip, characteristicof the fragmentationphase of
LCPD. B, The frog-leg lateral view demonstratessubchondral fracture,
increaseddensity of the {emoral head, and somecollapse.

STAGES.LCPD has been divided into four radiRADI0GRAPHIC

ographic stages:initial, fragmentation, reossification (or repair)'
and residual (or healed). In the initial stage, the radiographic
changes include a decreasedsize of the ossification center, lateralization of the femoral head with widening of the medial ioint
space, a subchondral fracture, and physeal irregularity. In the
fragmentation stage,the epiphysis appears fragmented, and there
are areas of increasedradiolucency and radiodensity. During the
reossification stage, the bone density returns to normal by new
(woven) bone formation. The residual stage is marked by the
reossification of the femoral head, gradual remodeling of head
shape until skeletal maturity, and remodeling of the acetabulum.
SYSTEMS.Catterall proposed a four-group clasCLASSIFICATI0N
sification, based on the amount of CFE involvement and a set of
radiographic "head at-risk" signs, with a high degree of interobserver variability. Group I hips have anterior CFE involvement of
257o,no sequestrum,and no metaphysealabnormalities.Group
II hips have up to 50% involvement, with a clear demarcation
between involved and uninvolved segments. Metaphyseal cysts
may be present. Group III hips display up to 75%oinvolvement
with a large sequestrum. In group IV, the entire femoral head is
involved.
A two-group classification is based on the extent of the subchondral fracture, which corresponds to the amount of subsequent resorption. ln Salter-Thompson group A' less than half of
the femoral head is involved (Catterall groups I and II), and in

extent of CFE involvement and duration of the diseaseprocess

are additional factors associated with a poor prognosis. Hips
classified as Catterall groups III and IV, Salter-Thompson Sroup
B, and lateral pillar group C are at risk of a poor prognosis'

TREATMENT
The goal of treatment in LCPD is to create a spherical well.nu.tid femoral head with hip range of motion that is close to
normal. The two main principles of treatment are maintenance

Figure 677-13. Lateral pillar classificationfor LCPD' A, There is no involve-ent of the lateralpillar. B, More than 50% of the lateralpillar height is maintained. C, Lessthan 50% of the lateral pillar height is maintained'

2808r PARTXXXI r BoneandJoinr Disorders

of range of motion and acetabular containment of the femoral
head during the active period of the process.
The methods of treatment include observation or no rrearment,
rntermittent symptomatic treatment, containment, late surgery
for deformity, and late surgery for osteoarthritis.
instay of treatment is nonion and physical therapy to
ents with severepain may
st and traction. Abduction

commonly used.

The stability classification separates patients based on their

ability to ambulate and is more useful in predicting prognosis and
establishing a treatmenr plan. The SCFE is considered "stable"
when the child is able to walk with or without crutches. A child
with an "unstable" SCFE is unable to walk with or without
crutches.Patientswith unstable SCFEshave a much higher prevalence of osteonecrosis(up to 50%) compared to those withitable
SCFEs (nearly 0%). This is mosr likely due to the vascular injury
caused at the time of initial displacement. SCFE may also be categorized by the degree of displacement of the CFE on the femoral
neck.
. The head-shaft angle difference is <30 degrees in mild slips,
between 30 and 50 degreesin moderate slips, and >60 degreeJin
severeslips, compared to the normal contralateral side.

ETIOTOGY
approached
sides of rhe
is the most
divided into

677.4o SuppED
GRprRlFruonn Eplpnvsrs
SCFE is a hip disorder thar affects adolescents,mosr often
of
!etw_e9112 and 15 yr of age,and involvesthe displacement
the CFE from rhe metaphysisthrough the zone of-hypertrophy
layerot rhe physealplare.

ctAssrFtcATt0N

Mechanical factors created by relative or true femoral neck retro-

retroversion of the femoral neck, and a more oblique orientation

of the physeal plate during adolescencehave all 6een shown to
be associatedwith increased shear force generation at the proximal femoral physeal plate and could be factors associatedwith
physeal plate fatigue.
Obese children often have retroverted femoral necks that are

tion with obesity and, at least in boys, hypogonadal fearures,and

the fact that the condition most frequently manifests during the
adolescent growth spurt. Additional evidence of an associition

EPIDEMIOTOGY
The annual incidence of SCFE is 2/100,000 in the general population. Incidence has ranged from 0.21100,000 in eastern japan
to 10.08/100,000 in the northeastern United States.The AfriclnAmerican and Polynesianpopulations have been reported to have
an increasedincidence of SCFE. Obesity is the most closely associated factor in the development of SCFE; about G5,'/" of the
p?tients are above the 90th percentile in weight-for-age profiles.
There is a definite predilection for males to beiffected moie often
than females and for the left hip to be affected more ofren than
the right. Bilaterality has been reported in as many as 60 io of
cases,nearly half of which may be present at the time of initial
presentatron.
tion; the upper end of the femur develops a ..bending of the
neck."

CtI]tIICAtPRESENTATION
Patientswith SCFE usually present with complaints of pain in the
aflected hip or groin, a change in hip range of motion,-an d a gatt
abnorm.ality. Infrequently the patient will complain only of
medial knee pain that may be referred to the knee via the obturator and femoral nerves.

677 I TheHip r 2809

Chapter
The symptoms and physical findings vary according to whether
the symptoms are chronic, acute-on-chronic, or acute; whether
the slip is stable or unstable: with the severity of the resultant
deformity; and with the coexistence of the complications of
osteonecrosisor chondrolysis.
ln stable, chronic SCFE, the patient describesintermittent pain
in the groin, the medial thigh, or the anterior suprapatellar region
of the knee. The pain is typically described as dull and vague and
is exacerbated by physical activity such as running or sports. The
onset of pain may be of several weeks' or several months' duration. The patient remains ambulatory, but does show an antalgic
gait with associated limp. Physical examination of the affected
hip reveals a restriction of internal rotation, abduction, and
flexion. Commonly, the examiner will note that as the affected
hip is flexed, the thigh tends to rotate into progressively more
external rotation (knee-axilla sign; Fig. 677-14) and that flexion
is limited.
Patients presenting with either unstable acute or acute-onchronic slipped epiphysis will characteristically report the sudden
onset of severe, fracture-like pain in the affected hip region,
usually as the result of a relatively minor fall or twisting iniury.
The acute form manifests by the sudden onset of severe pain and
hip dysfunction in a patient who was previously asymptomatic.
Physical examination demonstrates the affected limb externally
rotated and shortened with the patient refusing to bear weight.
Sinceapproximately 25% of patients will have evidenceof contralateral slip on initial presentation, the contralateral hip must
always be carefully assessedboth clinically and radiographically
by the treating physician.

Figure677-15.Illustrationof the Kleinline.

neck, and the "blanch sign of Steel" corresponding to the-double

detrsity created from the anteriorly displaced femoral neck over-

FINDINGS
RADIOGRAPHIC
and lateral
in anteroposterior
RADIOGRAPHS.
Plainradiography
views is the primary and often the only imaging study needed to
evaluate a slipped epiphysis. Common radiographic findings
include widening and irregularity of the physis, a decreasein epiphyseal height in the center of the acetabulum, a crescent-shaped
irea of increased density in the proximal portion of the femoral

the uninvolved hip, and eventually the line fully missesintersection with the proximal femoral epiphysis (Fig. 577-151. A true
lateral (cross-tlble lateral) radiographic view of the hip better
defines the extent of posterior displacement of the femoral
epiphysis.
CT can be used to confirm epiphyseal
C0MPUTEDTOMOGRAPHY.
measurethe amountof displacement
accurately
and
displacement
-patients
with symptoms suggestive of an SCFE but without
in
doiumentation on plain radiographs.
99M B0NE SCAN.Bone scanning will show increased
TECHNETIUM
uptake in the capital femoral physis of an involved hip, decreased
,ptake in the presenceof osteonecrosis,and increased uptake in
the joint space in the presenceof chondrolysis.

TREATMENT
Treatment can be divided into three categories: treatment to
prevent further slippage, treatment to reduce the degree of slippage, and salvagetreatment.
Prevention of further
Sl-IPPAGE.
FURTHER
TREATMENTT0PREVENT

Figarc 677-74. Progressive external rotation noted with flexion: the kneeaxilla siqn.

a single 6.5- to 7.5-mm cannulated screw. In situ-pin and.screw

fixat[n of SCFE accelerates closure of the affected physeal
plate.

2810r PARTXXXIr BoneandJointDisorders

c0MPucATt0Ns
Osteonecrosis and chondrolysis are the two most serlous complications of SCFE. Osteonecrosis,or avascular necrosis, usually
occurs as a result of injury to the retinacular vessels.This can be

ciated with more severe slips, occur more frequently amonS

African Americans and females, and be associatedwith plns or
screws protruding out of the femoral head.

Catterall A: The natural history of Perthes disease.J Bone Joint Surg Br

l97l;53:37-53.
Dobbs Ml Weinstein SL: Natural history and long-term outcomes of slipped
capital femoral epiphysis. Am Acad Orthop Surg Insfi Course Lect
2001;50:571-575.
Erol B, Dormans JP: Hip disorders. In Dormans Jp (editor): pediatric Orthopedics: Core Knotuledge in Orthopedics, Philadelphia, Mosby, 2005, pp
224-264.
Guille Jl Pizzutillo PD, MacEwen GD: Developmental dysplasia of the hip
from birth to six months. J Am Acad Orthop Surg 2000;8:232-242.
Hamer AJ: Pain in the hip and knee. Br Med J 2004;328:1067-1069.
Haynes DJ: Developmental dysplasia of the hip: Etiologg parhogenesisand
examination and physical findings in the newborn. Am Acad Orthop Surg
Instu Course Lect 200L;50:535-540.
Hennrikus WL: Developmental dysplasia of the hip: Diagnosis and treatment
in children younger than 5 months. Pediatr Ann 1999;28:740-746.
Herring JA, Neustadt JB, ufilliams JJ, et al: The lateral pillar classification of
Legg-Calv6-Perthes
disease.J Pediatr O rtbop'1,992;li: 143-1 50.
Kocher MS, Zurakowski D, Kasser JR: Differentiating between sepric arthritis and transient synovitis of the hip in children: An evidence-basedclinical
prediction algorithm. J Bone Joint Surg Am 7999;8J,:1662-1670.
Liu YF, Chen WM, Lin YF, et al: Type II collagen gene varianrs and inherited
osteonecrosisof the femoral head. N Engl J Med 2005;352:2294-2307.
Loder Rl AronssonDD, Dobbs M! et al: Slippedcapital femoral epiphysis.
Am Acad Ortbop Surg Instr CourseLect 2001;50:555-570.
Lowry CA, Donoghue VB, Murphy JF: Auditing hip ultrasound screenins of
infants at increased risk of developmental dysplasia of the hip. Arch-Dis
Child 2005 ;90:579-58l.
Lubicky JP: Chondrolysisand avascularnecrosis:Complications of slipped
capital femoral epiphysis.J Pediatr Orthop 1996;5:162-167.
Martinez AG, Weinstein SL, Dietz FR: The weight-bearing abduction brace
for the treatment of Legg-Calv6-Perthesdisease./ Bone Joint Surg Am
'1.992;74:1,2-27.

If the femoral head becomes severely

becomes stiff and painful as a result of

:y.'i:"t[X:e

proiedures
areindicated

.Hip arthrodesis is recommended in adolescents and young

adults.

PROPHYIACTIC
PI]IINING
OFTHECONTRATATERAL
HIP
The prevalence of contralateral slip, even in an asympromatic
patient, has led many to recommend prophylactic'pinning. In
patients who have SCFE associatedwith known meiabolJand
endocrine
.disorders, in which the risk of a contralateral slip is
extremely high, prophylactic pinning of the contralateral hip may
be approprlate.

Moseley CF: Developmental hip dysplasia and dislocation: Management

of the older chrld' Am Acad Orthop Surg Instr Course Lect 2001;5O:
547-553.
Noonan KJ, Price CT, Kupiszewski SJ, et al: Results of femoral varus
osteotomy in children older than 9 years oI age with Perthes disease.
/
Pediatr Ortb op 2001;21:19 8-204.
Reynolds RA: Diagnosis and trearment of slipped capital femoral epiphysis.
Curr Opin Pediatr 1999;1.1:80-83.
Roovers EA, Boere-Boonekamp MM, Castelein RM, et al: Effectivenessof
ultrasound screeningfor developmental dysplasia of the hip. Arch Dis Child
Fetal Neonatal Ed 2005 ;90:F25-F 30.
Roy DR: Current concepts in Legg-Calv6-perthes disease. pediatr Ann
1999;28:748-7 52.
Tamai J, Erol B, Dormans, JP: Hip disorders. In Dormans
Jp, Bell, LM
(editors): Pediatric Orthopedics and Sports Medicine: The Requisites in
Pediatrics.St. Louis, MO, Mosby, 2004, pp 1.75-2L2.
Thompson GH, Price CT, Roy D, et al: Legg-Calv6-perthesdisease:Currenr
concepts.Am Acad Orthop Surg Instr CourseLect 2O02;57:367-3g4.
US Preventive ServicesTask Force: Screeningfor developmental dysplasia of
the hip: recommendation statement. Pediatrics 2006;1.1,7
:g9g-902.
ItrTarnerWC
Jr, BeatyJH, Canale ST: Chondrolysis after slipped capital femoral
epiphysis.J Pediatr Orth op 1,996;5
:1,69-1,72.

I TheSpineI 2811
Ghapter6T3
Willis RB: Developmentaldysplasiaof the hip: Assessmentand treatment
before walking age. Am Acad Orthop Surg lnstr Course Lect
2 0 01 ; 5 0 : 5 41 - 5 4 5 .
Woolacott NF, Puhan MA, SteurerJ, Kleilnen J: Ultrasonographyin screening for developmentaldysplasiaof the hip in newborns:Systemicreview.Br
Med I 2005:330:1413-141,
5.

s(0U05ls
ldiopathk
Infantile
Ie
.iLi\/en
Adolescent
(ongenital
Falurofformatiof
Wedge
ve(ebrae
Hemivertebrae
Faiureofsegmentation
bar
Unllatera
Bo(kvertebra
Mixed

Abnormalities of the spine may be present at birth (congenital)

or may evolve during childhood or adolescence(developmental).
'lfhile
alterations in spinal alignment are of cosmettc concern to
the patient and family, some progressivecurvatures may be associated with cardiopulmonary dysfunction, pain, and a loss of
sitting balance (nonambulators). Early detection helps not only
to facilitate treatment, but also to identify and address coexisting visceral and/or neurologic problems that may be associated
with the spinal deformity. A classification of common spinal
abnormalitiesis presentedin Table 678-1.
Scoliosis is a three-dimensional deformity that is most commonly described as a iateral curvature of the spine in the frontal
olane. While most casesof scoliosis have no demonstrable etiologn and are termed idiopathic, scoliosis may be congenital or
may be associatedwith a host of neuromuscular diseasesor syndromes. Scoliosis may also be secondary to an infrapelvic deformity such as a leg-length discrepancy or a soft-tissue contracture
around the hip (abduction or adduction).
In the lateral (sagittal) plane, the spine has normal curvatures
in the cervical (lordotic or convex anteriorly), thoracic (kyphosis
or convex posteriorly), and lumbar (lordosis) regions to maintain
the relationships of body segments relative to the forces of
gravity. Maintaining the center of gravity is important for balance
and to minimize the amount of muscular activity (conserve
energy) required to maintain an upright posture. A vertical
(gravity) line dropped from the 7th cervical vertebra should normally fall through the posterosuperior corner of the sacrum. Disorders of sagittal alignment include thoracic hyperkyphosis and
lumbar hyperlordosis. Thoracic hyperkyphosis is seen most
commonly in patients with postural kyphosis or with Scheuermann disease. Lumbar hyperlordosis may be associated with
spondylolisthesisor may be secondaryto hip flexion contractures.

Neuromusculal
Neuropathrc
diseases
neur0n
upper
mor0r
palsy
Cetebral
(keidreich
disease)
Marie-Tooth
Charcot
ataxia,
degeneration
Spinocerebellar
5yringomyelia
tumol
5pnalcord
cord
trauma
5pinal
m0t0tneur0n
L0wer
Poliomyelrtis
atrophy
rnu(ular
5pinal
Myopathies
dysttopny
Durhenne
muscular
Arrnr0gryposrs
muscular
dystrophies
0ther
Syndromes
Neurofibromatosis
syndrome
Marfan
Compensatory
[eg-lengthdisctepancy
fiPH05t5
(flexible)
Posturai
kyphosis
disease
5cheuermann
kyphos6
Cofgenital
Failure
offormation
Far
ureofsegmentation
Mixed
(ommittee,S(oliosis
terms
lpne1976;1:57
0frcliosis
Aglossary
Research
5ociety:
theTerminOlogy
Adapted
from

curvature) is =2-3"/o; however approximately 0.3% will have a

c u r v e i n e x c e s s o f 2 0 d e g r e e s .V h i l e t h e i n c i d e n c e i s r o u g h l y e q u a l
in girls and boys for small curves (<10 degrees), girls have 10
times the risk of developing a curvature >30 degrees.
illitulllAi

MAllilf[ST&Tli]N$.

Patients usualli'

present

with

. loropRtnrc
Scouosls
678.1
The etiology of idiopathic scolioAND EPIDEMI0L0GY.
ETIOLOGY
sis is unknown and is likely multifactorial. Genetics plays a role,
and sex-linked dominant, autosomal dominant, and multifactorial inheritance have beensuggested.A positive family history does
not help to predict the behavior of an individual curve. Abnormalities identified in connective tissue, muscle, and bone appear
to be secondary. Melatonin and calmodulin may have indirect
effects; neurologic factors are also important. Subtle changes in
vestibular, ocular, and proprioceptive function have been documented, suggestingthat abnormal equilibrium may play a role.
Idiopathic scoliosis is classified according to the age at onset'
including infantile (rare, birth to 3 yr), juvenile (3-10 yr), and
adolescent (11 yr and older). Adolescent idiopathic scoliosis is
most common (=70%1. The prevalenceof scoliosis(>10 degrees

outwarcl rotation and prominence of the attached ribs posteriorly. The anterior chest wall may be flattened on the concavjty
due to inward rotation of the chest wall and ribs. Associated findings may include elevation of the shoulder, a lateral shift of the
apparent leg-length discrepancy. The patient should
rriir'rk,
"r-r
also be evaluated from the side. Typically, idiopathic scoliosis
results in a loss of the normal thoracic kyphosis in the region of
curvature (relative thoracic lordosis)' A careful neurologic exam-

2812r PARTXXXIr BoneandJointDisorders

ter (scoliometer, Orthopaedic SystemsInc.) is also used in some
programs to measure the degree of asymmetrS and the number
of degrees used for referral typically varies from 5 to 7. The referpl rate from these programs varies from 3"/" to 30"/". Follow-up
of adult patients with untreated late-onset scoliosis reveals an
increasedrisk of mild to moderate back pain and dyspnea (greater
with a thoracic apex and a Cobb angle >80 degrees).
RADI0GRAPHIC
EVAIUATI0N.Standing, high-quality, posteroanterior (PA) and lateral radiographs of the entire sprne are recommended at the initial evaluation for patients with clinical findings
suggestive of a spinal deformity. On the PA radiograph, the
degree of curvarure is determined by the Cobb method, in which
the angle between the superior and inferior end vertebra (tilted
into the curve) is measured (Fig.678-2). A line is drawn across
the superior end plate of each end vertebra, and the angle between
perpendicular lines erected from each of these is measured.
Although the indications for performing MRI are variable, this
modality is helpful when an underlying cause for the scoliosis is
suspectedbased on age (infantile, juvenile curves), abnormal find-

radiograph, an increase in thoracic kyphosis or an absence of

segmentallordosis may be suggestiveof an underlying neurologic
abnormality.

Figure 678-1. Structural changes in idiopathic scoliosis.A, As curvature

increases,alterationsin body configuration developin both the primary and
compensatorycurve regions.B, Asymmetry of shoulderheight, waistline,and
elbow-to-flankdistanceare common findings.C Verrebralrotation and associated posterior displacementof the ribs on the convex side of the curve are
responsiblefor the characteristicdeformity of the chest wall in scoliosis
patients.D, In rhe schoolscreeningexaminarionfor scoliosis,the patient bends
forward at the waist. Rib asymmetryof evena small degreeis obvious. (From
ScolesPV Spinal deformity in childhood and adolescence.In Behrman RE,
Vaughn VC III [editors]: Nelson Textbook of pediatrics, tJpdate 5. philadelp h i a , V B S a u n d e r s1, 9 8 9 . )

The decision of whether to treat the patient is based

al history, and options include observation, bracing,
stabilization. In general, idiopathic thoracic curva-

ination should always be performed. A subset of curves will be

adults or adolescents.
In addition to screeningduring regular visits to a primary care
physician, school screening programs are widespre;d in North
-ro
America and use the Adams forward bend test
identifv anv
asymmetry in the thoracic and/or lumbar resion. An inclinome-

planes, to maintain normal frontal and sagittal spinal balance,

and to maintain the correction so that a cast oi brace is noi
required postoperatively. Most procedures are performed poste-

Ghapter
678r TheSpiner 2813

Figure 678-2. Preoperative standing posreroanterior radiograph of a 14 year old girl who was skeletally immature and developed a 68 degree,right thoracic and
a 5 3 d e g r e e l e f t l u m b a r s c o l i o s i s( A ) . H e r t r u n k w a s s h i f t e d t o t h e r i g h t , a n d t h e l e f t s h o u l d e r w a s s l i g h t l y d e p r e s s e d . B a s e d u p o n t h e r i s k offu t u r e p r o g r e s s i o n ,
she was treated by an instrumented posterior spinal fusion from T3 to L3 with correction of the right thoracic curve to 20 degreesand the left lumbar curve to
10 degrees(B). Coronal spinal balance was restored, and shoulder height was maintained.

riorly, and the typical spinal construct includes 2 rods anchored

to the spine by hooks, wires, and/or screws (seeFig. 578-2). An
anterior releaseand fusion, performed through a thoracotomy or
thoracolumbar exDosure.is indicated for isolated thoracolumbar
and lumbar curve;, stiffer curves (improve correction), skeletally
immature patients (to prevent "crankshaft" from continued
anterior growth), and patients with a higher likelihood of not
achieving an arthrodesis with a posterior approach alone (neurofibromatosis, myelomeningocele). For idiopathic thoracolumbar and lumbar curves. an anterior fusion with instrumentation
(usually screws in the vertebral body connected to 1 or 2 rods)
can be done as an alternative to save lumbar motion segments.
Several techniques are being evaluated in the management of
idiopathic scoliosis. Thoracoscopic surgery has been used to
perform an anterior releaseand fusion; anterior spinal implants
may also be placed using this technique. The indications for thoracoscopic spine surgery are evolving. In addition, there has been
an interest in developing techniques to tether spinal growth, with
the goal of arresting curve progression (and achieving some correction) to avoid a future spinal fusion in patients with a high
risk of progression.The technique involves open or thoracoscopic
placement of metallic staples into the vertebral bodies (across
each intervertebral disk space or growth zone) to hold the spine
in a corrected position and tether the growth on the convexiry of
the curvature.

Scollosls
678.2o CoNGENITAL
Congenital scoliosis results from abnormal growth and development of the vertebral column likely due to intrauterine events at

liosis often have visceral and intraspinal anomalies as well' Once

a congenital spinal anomaly is diagnosed, a priority is to rule out
malfoimations in other organ systems.Genitourinary abnormalities are identified in 2040"h of children with congenital scoliosis and include unilateral renal agenesis' ureteral duplication,

2814I PARTXXXIr BoneandJointDisorders

Defectsof Segmentation
Block vertebra

UnilateralBar

Unilateral Bar and Hemivertebra

Bilateral
failureof
segmentation

Defectsof Formation
Hemivertebra

Wedge vertebra

Unilateral
complete
failureof
formation

Figure 678--3.The defectsol segmentation and formation that can occur

during spinal development (From
McMaster MJ: Congeniralscoliosis.In
Weinstein SL feditor]: The Pediatric
Spine: Principlesand Practice,2nd ed.
Philadelphia, Lippincott lTilliams &
Wilkins, 2001, p 1,63.)

Unilateral
partiallailure
of formation

Fullysegmented Semisegmented Incarcerated Nonsegmented

anomaly. Infants with cutaneous abnormalities overlying the

spine may benefit from ultrasonography to rule out an occult

bra must be followed closely,and many, but not all, of these will
be associatedwith a progressivedeformiry that requires surgical
intervention. In contrast, an isolated block vertebra has little
growth potential and rarely requires treatment.
Early diagnosis and prompt treatment of progressivecurves are
essential.Bracing is not indicated for most congenital curves due
to their structural narure, except in rare casesin which the goal
is to controi a flexible, compensatory curvature in another area
of the spine. The treatment of progressive curves is preemptive
spinal arthrodesis, and both anterior and posterior spinal fusion
is often required. Other procedures thar are employed in selected
patients include an isolated posterior spinal fusion (sometimesan
in situ fusion), convex hemiepiphysiodesis (only 1 side of the
spine is fused to allow some correction of the deformity with

The risk of progression depends on rhe growth potential of

each anomaly, which may vary considerably, so close radiographic follow-up is required. Progression of these curves is
When multiple levels of the thoracic spine are involved, especially in the presenceof fused ribs, a progressive 3-dimensional
deformity of the chest wall may impair lung development and
function, resulting in a thoracic insufficiency syndrome. This
syndrome is best described as the inability of the chest wall to
support normal respiratlon. A thoracic insufficiency syndrome
may be seen in patients with several recognized conditions such
as Jarcho-Levin syndrome (spondylocostal or spondylothoracic
dysplasia) and Jeune syndrome (asphyxiating thoracic dystrophy). There is interest in treating these difficult cases with an
experimental technique called expansion thoracoplasty, in which

r TheSpineI 2815
Chapter6TS

Figure 678-4, A, Anteroposteriorpreoperativeradiograph of a 7 mo old boy with congenitalscoliosisand fused ribs. A three-dimensionalreconstructionof a
Ci scanof the chestof this infant esrimatedhis lung volume tobe 1,73.2mlr. B, Anteroposteriorradiograph after implantation of a vertically expandableprosthetic titanium rib and severalexpansionsover 33 mo. The lung volume now measures330.3 mL3, an increaseoI 90.7% (From Gollogly S, Smith J! Campbell RM: Determining lung volume with three-dimensionalreconsrrucionsof CT scan data: A pilot study to evaluatethe effectsof expansionthoracoplastyon
children with severespinal deformiries J Pediatr Orthop 2004;23:323-328.)

the thoracic cage is gradually expanded over time by progressive

lengthening of the chest wall on the concavity of the spinal deformity (or in some caseson both sides of the spine). The procedure
involves an opening wedge thoracostomy, followed by placement
of a vertical expandable titanium prosthetic rib. The implant is
then distracted (lengthened)at regular intervals (Fig. 678-4). The
primary goal is to gradually correct the chest wall deformity to
improve pulmonary function, and a secondary goal is correction
of an associatedspinal deformity. This technique is currently not
approved for the treatment of scoliosis in the absenceof a thoracic insufficiency,and further study will help to refine (and possible expand) the indications for this new technique.

o NEURoMUScULAR
678.3
Scouosrs,
Grruenc
AND
Cotuprrusntony
Scouosrs
Svuonorurs,
NEUROMUSCUTAR
SCOtl0SlS. Scoliosis is frequently identified in
children with neuromuscular diseasessuch as cerebral palsS the
muscular dystrophies and other myopathies, spinal muscular
atrophy, Friedreich ataxia, myelomeningocele,polio, and arthrogryposis. The etiology and natural history differ from those seen
in idiopathic and congenital scoliosis. Most cases result from
weakness and/or imbalance of the trunk musculature, and spasticity plays a role in many patients as well. Coexisting congenital vertebral anomalies are seen in patients with

myelomeningocele.Neuromuscular scoliosis is most common in

the nonambulatory population and may be diagnosed in up to
68"/" of nonambulatory patients with cerebral palsy, and >90o/"
of patients with Duchenne muscular dystrophy- The most
common pattern is a long "C"-shaped curve, which is often
associated with pelvic obliquity. In general, the clinical
course depends on the severity of neuromuscular involvement
and the nature of the underlying disease process (especially if
progressive).
The consequencesof a progressive scoliosis in the neuromuscular population involve both function (sitting and standing
balance) and ease of care; in some cases,visceral function may
be compromised. In patients who are wheelchair bound, one arm

2816r PART)0fi1 r BoneandJoint Disorderc

is inspected with the patient sitting upright (with or without
support) and any asymmetry noted. These patienrs often need
manual support to maintain an upright position. If any asymmetry is observed, then upright (sitting) PA and lateral radiographs
are obtained.
The treatment of neuromuscular scoliosis depends on the age
of the patient, the underlying diagnosis, and the degree of progression. The goal is to achieve or maintain a straight spine over
a level pelvis, especially in patients who are wheelchair bound,
and to intervene early before curve magnitude and rigidity
increase.In contrast to idiopathic and congenital scoliosis, neuromuscular curves may continue to progress after skeletal maturity. In general, curves of >40-50 degreeswill continue to worsen
over time. Although brace treatment will not arrest progression
in the long term, this straregy may help to slow the rate of progression until more definitive treatment can be carried out. As the
standard bracesused for idiopathic scoliosis are poorly tolerated

>40-50 degrees.The indications will differ somewhat based on

discrepancy) to level the pelvis. If the curvature disappearswhen

the limb-length discrepancy is corrected, then a diagnosis of a
compensatory curve is made. An alternative is a PA radiograph
with the patient seated.In neuromuscular disorders such as polio
or cerebral palsS an adduction or abduction contracture of the
hip (fixed infrapelvic contracture) may be compensated for by a
Iumbar scoliosis to maintain standing or sitting balance. For
patients who ambulate, a 10-degreefixed contracture will result
in up to 3-cm apparent leg-length discrepancy.

o KYPHosts
(Bourro-Bncrl
678.4
The normal thoracic spine has 20-50 degreesof kyphosis when
using the Cobb technique (T3-12), and individuals with higher
degrees of kyphosis may present with cosmetic concerns, back
pain, or both. A thoracic kyphosis in excessof the normal range
of values is termed hyperkyphosis. The deformity may be flexible (postural kyphosis) or rigid (Scheuermanndisease,congenital
kyphosis, other causes).Many conditions may be associatedwith
hyperkyphosis, and categories include posttraumatic (following
spinal fractures), postinfectious (bacterial, tuberculosis, fungal),
metabolic (osteogenesis imperfecta, osteoporosis), iatrogenic
(postlaminectomy, postradiation), neuromuscular, neoplastic,
and congenital/developmental.Examples of congenital or developmental conditions include disorders of collagen (Marfan
syndrome), and a number of dysplasias (neurofibromatosis,
achondroplasia, mucopolysaccharidosis). The evaluation and
treatment depends on the underlying diagnosis, the degree of
deformiry whether the deformity is progressive,and whether any
symptoms are present.

(POSTURAI
FTEXIBLE
KYPHOSIS
KYPHOSIS}

servesas a point for fixation), and the typical construct includes

sublaminar wires at each level, which are attached to 1 (unit rod)

Postural kyphosis is a common cosmetic concern and is mosr

often recognizedby family and friends. Adolescentswith postural
kyphosis can correct the curvature voluntarily. A standing lateral
radiograph will show an increasein kyphosis, but no parhologic
changes of the involved vertebrae. A supine hyperextension
lateral radiograph will show complete correction. There is no evidence to suggestthat postural kyphosis progressesto a structural
deformity or to back pain or other symptoms in later life. In addition to reassurance,a thoracic hyperextensron exerclse program
may assist in strengthening the extensor muscles of the spine.
Neither bracing nor surgery plays a role in the management of
this condition.

STRUCTURAT
KYPHOSIS
SCHEUERMANNDISEASE. Scheuermann disease is the most
common form of structural hyperkyphosis and may occur in the
thoracic or thoracolumbar spine. In addition to hyperkyphosis,
this condition is defined by wedging (>5 degrees)of 3 or more
consecutive vertebral bodies at the apex of the deformity on a
lateral radiograph. Associated radiographic findings include
irregularities of the vertebral end plates and Schmorl nodes. Histologic specimens have shown a disordered pattern of endochondral ossification, but it remains unclear whether these
findings are primary (genetic or metabolic) or secondary (due to
mechanical overload). The etiology remains unknown, but mosr
likely involves the influence of mechanical forces in a genetically
susceptibleindividual. The reported incidence varies from 0.47o
to 70"/o, and boys are involved more frequently than girls.
CtlNlCAt MANIFES l0NS. There is a hyperkyphosis of the thoracic spine, typically associatedwith a sharp contour, and often
the apex of the deformity will be in the lower rhoracic spine.

r fhe SPiner 2817

Ghapter6TS
educationseemto be no differentthan in the generalpopulation'
Kyphotic deformities>90 degreesare more likely to be aesthetisymptomatic,and progressive.Deformities
cally unacceptable,
in excessof 100 degreesmay be associatedwith pulmonary
dysfunction.
Thereare few absoluteguidelinesfor treatment,and decisions
must be individualized.Skeletallyimmaturepatientswith mild
deformity may benefit from a hyperextensionexerciseprogram'
but the effectsof this strategyon the natural history remain to
be documented.Patientswith >1 yearof growth remainingand
a kyphosis of >55-50 degreesmay benefit from a bracing
program.A Milwaukeebrace(extendsup to the neck)is recommendedfor thosecurveswith an aPexaboveT7, while curves
with a lower apex may often be treated by a thoracolumbar
for up to23 htlday.On occaorthosis.The braceis recommended
sion, a serialcasting(or stretching)programis institutedto gain
flexibilityprior to institutingthe braceprogram.The goal of the
braceis to preventprogression,and a permanentimprovement
in alignmeniare seenlesscommonly.When effective,radiographs
will often show a reconstitutionof anterior vertebral height

posteriorspinalfusion.

KYPHOSIS
CONGET[ITAI
Congenitalkyphosisresultsfrom congenitalvertebralmalformations-.In an anteriorfailureof formation(typeI), a portion of the

Figure678--5.Standinglateralradiographof a 14yr old boy with severe

T3 andT12 Note
kyphosis.
Thismeasures
92 degrees
between
Scheuermann
atT6,T7, T8, and T9. The normalthoracic
the wedgingof the vertebrae
kyphosisis S40degrees

Patients are unable to correct the deformity voluntarily. Pain is a

relatively common complaint and is typically mild and in the
region of the apex of the kyphosis. The symptoms are intermittent, rarely severe,and occasionally limit certain activities. Neurologic symptoms are uncommon.

be ruled out.
The treatmentdependson the typeof malformation,the degree

EVALUATI0N.Standing PA and lateral radiographs

BADI0GRAPHIC
are obtained (Fig. 578-5). A specific, standardized technique in
which the arms are folded across the chest is recommended for
the lateral view. In addition to the diagnostic findings noted
above, a mild scoliosis is commonly seen, and less frequently, a
spondylolisthesismay be identified on the lateral radiograph.
TREATMENT.Treatment depends on the age of the patient, the
degreeof deformity, and whether any symptoms are present. The
natural history of Scheuermann diseaseappears to be relatively
.While
early reports suggestedthat significant degenerabenign.
of 75
tive changes and pain are common with curves in excess'While
degrees, other studies report a more benign outcome.
adults with untreated Scheuermann diseasemay have a Sreater
intensity of back pain, the prevalenceof back pain appears to be
no different than in the general population. Patients may select
more sedentary occupations, but their self-esteem,participation
in activities of daily living and recreational activities, and level of

lruGnlmReru
678.5.BAcKPRlru
Back pain is a relatively frequent complaint in children and adolescenis,and the differential diagnosis is extensive (Table 678-2).

2818r PARTXXXI r BoneandJointDisorders

at T1 1. B, Lateral radiograph obtained 7 mo after excisionof the hemivertebra

using a posterror-onlyapproachinvolving costotransversectomy,
with segmentalspinal fixation from T.5to f:. fn" postoperativekyphosismeasured41 degrees.
(From Smith JT, Gollogly S, Dunn HK: Simulraneousanterior-posteriorapproachthrough a cosrorransversecro-yio. the treatmeni
of congenitalkyphosii and
acquiredkyphoscolioticdeformities.J Bone Joint Surg Am 2005;g72281-2299.)

spasm. Palpating the top of the iliac wings while the patient is
standing assesses
leg lengths. As spinal pain may be referred, an
abdominal examination should be performed, and in females, a
gynecologic evaluation may be necessary. Pathology at the
sacroiliac joint will occasionally mimic low back pain, and this
joint should be stressedby compression of the iliac wings or by
external rotation at the hip. A careful neurologic examinarion
should be performed. In addition to manual muscle testing and
assessingsensation and proprioception, the superficial abdominai reflex should be tested by gently stroking the skin on each of
the 4 quadrants surrounding the umbilicus. Normally, the umbilicus will move toward the area stimulated. A norrnal examination
includes symmetry in the responseon borh sides of the midline,
even if the reflex cannot be elicited on either side. An abnormal
test suggeststhe presenceof a subtle abnormality of spinal cord
function, most commonly syringomyelia. The straight leg raise
test evaluatestension on the lower spinal nerve roots, looking for
a herniated disk or slipped vertebral apophysis.

spine are recommended. \fith lumbar back pain, right and left
oblique views are recommended as well. In patients wilh a normal
neurologic examination, a bone scan with single-photon emission
computed tomography (SPECT) will help to diagnose a stress
reaction or spondylolysis. MRI is most helpful when neurologic
symptoms or findings are present. CT is the study of choice ior

678 r TheSpiner 2819

Chapter

ITIFI.AMMATORY/INFEOIOUS
Diskitis
(pyogenic,
Veftebral
05te0myelitis
tubenulous)
Spinal
epidural
absces
Pyelonephtith
Pancreatitis
RHEUMATOTOGI(
juvenile
Paucranirular
rheumatoid
arthritis
Reiter
syndrome
Ankylosing
spondylitis
Psoriati(
arthritis
DEVETOPMENIAT
Spondylolysis
Spondylolisthesis
Scheuermann
disease
5coliosis
(ACUTE
VERSUS
REPETITIVE)
TRAUMATIC
anomalies
Hip-pelvic
di5k
Herniated
0veruse
syndromes
Vertebral
stress
fra(ures
Upper
cervical
spine
instabilily
NEOPTASTIC
Vertebral
tumo6
Benign
[osinophilic
Aranuloma
bone
cyst
Aneurysmal
osteoma
05teoid
0sleobla$oma
i\,4alignant
0steogenic
sarcoma
Leukemla
Lymphoma
tumor
l\4etastati(
ganglia,
roots
and
nerve
Sprnal
cord,
lntramedullary
spinal
cord
tumor
(hain
Sympathetii
Ganglioneuroma
Ganglioneurobla$oma
Neuroblastoma
OTHER
pathology
orpelvic
lntra-abdomrnal
puncture
Following
lumbar
Conversion
reaclion
osteoporosis
Juvenile

defining bony lesions. When systemic srgns or constitutional

symptoms are present,a complete blood cell count with differential, erythrocyre sedimentation rate, and C-reactive protein
should be ordered. In certain cases,laboratory testsfor the juvenile forms of arthritis (juvenile rheumatoid arthritis and ankylosing spondvlitis)are indicated.

(especially interior lineman), weight lifters, and wrestlers' A

genetic component has been suggested. The lesion is most
common at L5, but may be identified at upper lumbar levelsas
well. Approximately 5o%of casesof spondylolysis will develop a
forward slippage of the involved vertebra on the vertebra below
(spondylolisthesis).
The natural history is variable.'Whilea subset
of casesremains asymptomatic, spondylolysis is a common cause
of back pain in the adolescentpopulation.
Spondylolisthesis involves slippage of 1 vertebra on another
and is also most common at L5. In children and adolescents,the

CLINICALMANIFES l0NS. Symptomatic patients with spondylolysis usually present with mechanical low back pain that may
radi"te to the buttocks, with or without spasm of the hamstring
rnuscles.Radicular symptoms are uncommon. The pain is exacerbated by spinal hyperextension' Physical examination may
reveal a limitition in lumbar flexibility in addition to discomfort
with palpation over the spinousprocessof the involved vertebra.
Hamitring spasm rs an important clinical finding and usually
resulrs in mild contracture and often discomfort during testing

careful neurologic examination is essential.

The initial evaluation of the lumbar
EVALUATI0N"
BADI0GRAPHIS

cauda equina or nerve root involvement.

While the asympromatic patient with spondylolysis
TREATMENT.

ANOSPONDYLOLISTHESIS
678.6. SPONDYLOLYSIS
Spondylolysisrepresentsa unilateralor bilateraldefectin the pars
interarticularis,the segmentof bone connectingthe superior and
inferior articular facets. Spondylolysis is an acquired condition
that is present in approximately 4-6"/" of the adult population
and is thought to result from repetitive hyperextenslon stresses
whereby the inferior articular facet impacts the pars interarticularis. The condition developsas a stressfracture,which then goes
on to a pseudarthrosis("false joint")in many cases.Patientswith
excessivelordosis in the lumbar spine may be predisposed,and
spondylolysisis most common in athleteswho engagein repetitive spinal hyperextension,especiallygymnasts,football players

spondylolysis atL5, a posterior spinal fusion from L5 to 51 is

indicaied. For the infrequent casesin which the defect is at higher

2E20I PARIXXXI I BoneandJoint Oisorders

sity for such casesto progress.The surgical approach for these

high-gradeslips,with and without neurologicdysfunction,varies
betweensurgeonsand institutions. The main principle is to stabilize the unstable segmentof the spine. Procedurescommonly
performedinclude posterior spinal fusion, and anterior and posterior spinal fusion, with or without spinal instrumentationand
with or without an attempt at reduction of the deformity. Neurologic symptoms may resolve with stabilization, and on occasion decompressionof the neural elementsis performed as a
componentof the stabilization procedure.

. DrsK
678.7
Spncr
lrurrcnon
Figure 678-7. A, Normal spine at 9 mo of age. B, Spondylolysis in the L4 vertebra at 10 yr of age. (From Silverman FN, Kuhn Jp: Essentials of Caffrey's
Pedntric X-Ray Diagnosr's. Chicago, Year Book Medical publishers, 1990,

p.94.1

levels in the lumbar spine, techniquesfor repairing the defect may

be considered. If successful,these procedures will avoid the need
to surgically fuse the 2 vertebrae. Recommendations for the manaement of spondylolisthesis depend on the age of the patient,
the_presence of symptoms (pain and./or neurologic), the degree of
deformiry and to a lesser exten! on cosmetic concerns. For low-

Both diskitis and vertebral osteomyelitis may be considered as

age-dependent variations of infectious spondylitis. Diskitis is generally seen in children younger rhan 5 yr of age, while verrebral
osteomyelitis occurs in older children and adolescents.Patients in
the younger age range have vascular channels that communicate
between the vertebral end plate and the vascular disk space,
which explains the prevalence of diskitis. Once these channels
have closed, the infection remains in the vertebra.
Staphylococcus aureus is the most common organism identified from blood (rarely) or the aspirated fluid of the disk space
(occasionally). Other organisms include Kingella kingae, group A
streptococcus and, Escherichia coli. An organism is recovered
from any site in only 50-60% of patients.
. A high index of suspicion is required
of diskitis. In addition to back pain
experience malaise, and toddlers may
walk or sit. In an effort to reduce the
pain associated with spinal motion, the spine is held in a rigid
position, and there may also be splinting from paraspinal muscle
spasm. There may be local spinal process tenderness.In particular, flexion of the spine compresses the anterior elementi of the

The characteristic features on plain

space narrowing and irregularity of
ates, develop 2-3 wk after the onset
of _symptoms. The diagnosis may be established earlier using
either a technetium bone scan or MRI. MRI is most helpful in
identifying abscessesand ruling out vertebral osteomyeliti;.

Figure 678-8. Defect in the pars interarticularis (arrow) of the neural arch of
L5 (spondylolysis) that has permitted the body of L5 to slip forward (spondylolisthesis) on the body of S1. (From Silverman FN, Kuhn Jp: Essentials of
Caffrey's Pediatric X-Ray Diagnosis. Chicago, year Book Medical publishers,
1990, p. 9s.l

Once the diagnosis is established,sympromaric care

vity restriction, analgesics, and immobilization in a
spinal orthosis. As both blood cultures and cultures of disk space
material are often negative, the etiology of diskitis has been
debated. Most evidence suggesrsthat the etiology is bacterial,
leading to the recommendation that treatment include a 4-5-wk
course of intravenous (initially for I-2 wk) and then oral antibiotics effective against S. aureus. A CT:guided needle biopsy of the
disk space is not routinely required and is usually resirved for
children who do not respond to initial trearment with antibiotics.
Surgical treatmenr is usually required to establish the diagnosis
in patients who do not respond to initial therapy or to drain an
abscess.

Chapter678 I The Spine r 2821

DrsrHrnrurnnon/Suppro
678.8o INTERvERTEBRAL
VeRreeRRL
ApopHYsts
Intervertebral disk herniation and slipped vertebral apophysis are
extremely rare in children and uncommon in adolescents. The
symptoms and physical findings are quite similar to those in
adults. lfhile the etiology remains unknown, predisposing factors
for both of these may include disk degeneration, congenital malformation, genetics, and environmental factors. Both are spaceoccupying lesions that may encroach on the neural elements.
.While
a herniated disk typically involves either a protrusion (rarely
a free fragment) of nuclear material into the spinal canal, the
slipped vertebral apophysis involves protrusion of a portion of the
ring apophysis with or without an attached segment of bone.
Symptoms of intervertebral disk herCtlNlCAt MANIFESTATI0NS.
niation in adolescentsare similar to those in adults, and there is
often a history of trauma. A subset of patients have congenital
anomalies of the lumbosacral spine. The major complaint is back
pain, and radicular symptoms (if present) generally appear later
in the course. The back pain is often made worse by coughing or
straining. On physical examination, both paraspinal muscle
spasm and a decrease in range of motion are common. While
overt signs of neurologic involvement are absent in most patients,
a positive straight leg raise test is usually present. When present,
the neurologic findings often do not correlate with the level of
disk herniation. An intraspinal tumor should always be suspected
in the differential diagnosis.
EVALUATI0N.Radiographs often show loss of
RADIOGRAPHIC
lumbar lordosis and a lumbar curvature (not a true scoliosis)
which is due to muscle spasm. Degenerativechangesand/or a loss
of intervertebral disk height is occasionally noted on plain films.
MRI is the best study to establish the diagnosis, and CT is especially helpful to visualize a partially ossified fragment associated
with a slipped apophysis.
TBEATMENT.The initial treatment is nonoperative in most
patients and focuseson rest, activity modification, analgesics,and
physical therapy. An orthosis may provide additional symPtomatic relief. Complete bed rest is not recommended. The role of
epidural steroids remains to be determined. Surgical treatment
should be considered when nonoperative measureshave failed or
when a profound neurologic deficit or cauda equina syndrome is
present either initially or as the clinical course evolves. Unfortunately, children and adolescentsrespond less favorably to nonoperative therapy compared with adults, and a significant
percentage will require surgical intervention. The surgical technique involves a laminotomy, and subtotal disk excision to
decompressthe neural elements.In the caseof a slipped vertebral
apophysis, a similar approach is employed; however, fragments of
bone and cartilage must also be removed, which often requires a
bilateral laminotomy to completely address the pathology. While
the initial results are excellent in the majority of patients, the literature suggeststhat up to Y3of patients may have recurrent symPtoms of back or leg pain at longer term follow-up. A spinal fusion
may be required when clinical instability is present.

678.9o TuMoBs
Backpain may be the mostcommonpresentingcomplaintin children who have a tumor involving the vertebral column or the
spinal cord. Other associatedsymptomsmay include weakness
of the lower extremities,scoliosis,and lossof sphinctercontrol.
The majority of tumors are benign(seeChapter501), including
osteoid osteoma, osteoblastoma,aneurysmalbone cyst' and

these lesions.

Idiopathic Scoliosis
Cassar-Pullicino VN, Eisenstein SM: Imaging in scoliosis: What, why and
hovr? Clin Radiol 2002;57:543-552.
Do ! Fras C, Burke S, et al: Clinical value of routine preoperative magnetic
resonanceimaging in adolescentidiopathic scoliosis:A prospective study of
three hundred and twenty-seven patients. Bone Joint Sutg Am
2001;83:577-579.
Dobbs M, Lenke LG, Szymanski DA, et al: Prevalenceof neural axis abnormalities in patients with infantile idiopathic scoliosis.,f Boze loint Sutg Am
2002;84:2230:2234.
Edgar M: A new classification of adolescent idiopathic scoliosis. Lancet
2002:360:270-271.
Goldberg CJ, Moore DP, Fogarty EE, et al: Adolescentidiopathic scoliosis:The
effect of brace treatment on the incidence of surgery.Spine 2001;26:4247'
Karol LA: Effectivenessof bracing in male patients with idiopathic scoliosis'
Spine 2001;26:2001-2005.
I-enke f1, Betz RR, Harms J, et al: Adolescent idiopathic scoliosis.A new classification to determine the extent of spinal arthrodesis. J Bone Joint Surg
Am 2001;83 :1 169 -11'81.
Little DG, Song KM, Katz D, et al: Relationship of peak height velocity to
other maturity indicators in idiopathic scoliosis in girls.,f Bone Joint Surg
Am 2000;82:685-693.
Merola AA, Haher TR, Brkaric M, et al: A multi-center study of the outcomes
of the surgical treatment of adolescentidiopathic scoliosis using the Scoliosis ResearchSociety (SRS)outcome instrument. Spine 2002;27:2045-20 5l'
Song KM, Little DG: Peak height velocity as a maturity factor for males with
idiopathic scoliosis.J Pediatr Otthop 2000;20:286-288.
SponsellerPD: Sizing up scoliosis.JAMA 2203;289:608-609Weinstein SL, Dolan LA, Spratt KF, et al: Health and function of patients with
untreated idiopathic scoliosis.JAMA 2003;289:5 59-567'
Congenital Scoliosis/Kyphosis
Basu PS, ElsebaieH, Noordeen MH: Congenital spinal deformity: A comprehensive assessmentat presentation. Spine 2002;27:225 5-2259 Campbell RM, Hell-Vocke AK: Growth of the thoracic spine in congenital
scoliosis after expansion thoracoplasty. J Bone loint Surg Am 2003;85:
409420.
Campbell RM, Smith MD, Mayes TC, et al: The characteristics of thoracic
insufficiency syndrome associatedwith fused ribs and congenital scoliosis'
J Bone Joint Surg Arn 2003;85:399-408.
Diviren V, Bervin S, Smith JA, et al: Excision of hemivertebrae in the management of congenital scoliosis involving the thoracic and thoracolumbar
spine.! Bone Joint Surg Bt 2001';83:496-500Goilogly'S, Smith JT, Campbell RM: Determining lung volume with threediminsional reconstructions of CT scan data. J Pediatr Orthop 2004;24:
323-328.
Kim YJ, Otsuka Nt Flynn JM, et al: Surgical treatment of congenital kyphosis. Spine 200 | ;26 :225 l-22 57 .
McMaster MJ, Singh H: The surgical managementof congenital kyphosis and
kyphoscoliosis. Spine 2001;26:21'46-21'54.
Smiitr Jf, Gollogly S, Dunn HK: Simultaneous anterior-posterior approach
through a costotransversectomyfor the treatment of congenital kyphosis
and aiquired kyphoscoliotic deformities. J Bone Joint Surg Am 2005;87:

228r-2289.
Suh SW, Sarwark JF, Vora A, et al: Evaluating congenital spine deformities-for
intraspinal anomalies with magnetic resonanceimaging. J Pediatr Orthop
2001:21:525-531.

2822 r PARTXXXI r gens and Joint Disorders

Neuromuscular Scoliosis
JonesKB, SponsellerPD, ShindleMK, et al: Longitudinal parenralperceptions
of spinal fusion for neuromuscularspine deformity in patientswith totally
involved cerebralpalsy.I Pediatr Orthop 2003;23:143-1.49.
SpiegelDA, Flynn JM, StasikelisPJ, et al: Curve parrernsin Chiari I malformation and/or syringomyelia Spine 2003;28:2139-2146.
'$Testerlund
LE, Grll SS,JjaroszTS, et al: Postelor-only unit rod instrumenration and fusion for neuromuscularscoliosis.Spine 2001;26:1984-1.989
Kyphosis
B o s e k e rE H , M o e J H , W i n t e r R B , K o o p S E :D e t e r m i n a t i o no f , , n o r m a l "t h o ,
r a c i c k v p h o s i s :A r o e n t g e n o g r a p h isct u d v o f 1 2 1 " n o r m a l , , c h r l d r e n /
Pedi arr () rt h oD 2000:20:795-7 98.
PapegelopoulosPJ, Klassen RA, PetersonHA, er al: Surgical rreatment of
Scheuermann'sdiseasewith segmentalcompressionrnstrumentation.C/rn
Orth op 2001386 t1 39-149.
PoolmanRW, BeenHD, UbagsLH: Clinical outcomeand radiographicresulrsafrer
operatrverreatmentoi Scheuermann\diseaseEzr SptneJ 2002;11:567-569
Back Pain
B a l a g u eF , D u d l e rJ , N o r d r n M : L o w - b a c kp a i n i n c h i l d r e n .L a n c e t2 0 0 3 ; 3 6 J , :
1403-1404
F'eldmanDS, Hedden DM, Wright JG: The use of bone scan to invesrigare
back parn in children and adolescentsJ pedatr Orthop 2000;20:790-795.
Jones Gl Macfarlane CiJ: Epidemiology of low back pain in children and
adolescents.
Arch Dts Child 2005;90:312-316.
ParisinP
i ,D r S i l v e s r rM
e , G r e g g iT , e t a l : L u m b a r d r s ce x c i s i o ni n c h i l d r e na n d
adolescentS
s D r n e2 0 0I : 2 6 : 1 9 9 7 - 2 0 0 0
SpeedC: l-ow back pain. Br Med J 2004;328:1119-1127.
rWatsonKD, PapageorgiouAC,
Jones GT, et al: Low back pain in schoolc h r l d r e nt:h e r o l eo f r h em e c h a n i c aal n d p s v c h o s o c i af al c t o r sA
. r c h D i sC h i l d
2 0 0 3 ; 8 8 : 1 2 -7l
Spondylolysis and Spondylolisthesis
GrzegorzewskiA, Kumar SJ:In srtu posterolateralspinearthrodesisfor grades
III, IV, and V spondvlolisrhesis
in children and adolescents.
I pediatr Ortboo
2 0 0 0 : 2 0 : s 0 6 - -Ii t .
I - e n k e L G , B n d w e l l K W : E v a l u a t i o na n d s u r g i c a lt r e a r m e n to f h i g h - g r a d e
i s t h m i cd y s p l a s t r sc p o n d y l o l i s t h e s ilsn.s t r C o u r s eL e c t 2 0 0 3 1 5 2 : 5 2 5 - 5 3 2 .

CONGENITAT
[,4usc!lar
tl]rtlrol]6
Posrtional
deformation
(cervrcal
|ierrlivertebra
spne)
Uniiatefal
atlanto
0(lpltal
fusi0n
KIippel
tuisyndrome
Unlateral
absence
ofstern0cleid0mastold
(olli
Pterygium
TRAUMA
(cervical
Muscular
njury
muscles)
pitasubl|rMtlon
Atlanto-l](
Atlantoaxial
sub
uxation
C23subluxation
Rotary
subluxation
Fractures
INF[AMMATION
[er\/i(al
]ymphadenitis
Retropharyngeal
absces
[ervca]vertebra
osteomyelltis
Rheumato
darthr
tis
(hyperemia,
Spontaneous
edema)
subluxation
withadJa(ent
(rotary
head
and
ne(k
infe(ti0n
subluxaion
syndrome).
Grise
syndrome
pneumon
Upper
lobe
a
NEUROTOGI(
(nystagmus,superi0r
Vrsual
disturbances
paresrt
0bliqLle
(phenothiazires,
Dystonic
drug
reartr0ns
hal0perid0l,
metod0pramlde)
(ervica
cord
tumor
Posterior
fosabrarn
titmor
5yringomyelia
Wilsof
disease
Dystonia
musrulorum
deformans
5pasmus
nutans
OTHER
Acute
cervica
disk
calcification
(gastroesophageal
Sandifer
syndrome
refl
ux,hlatal
hernia)
paroxysmal
Beniqn
torticolirs
(eos
Bone
ganuloma)
tumon
nophilic
50ft
ti5sue
tL]m0r
Hysteria

Disk SpaceInfection
B r o w n R , H u s s a i nM , M c H u g h K , e r a l : D i s c i t i sr n y o u n g c h i l d r e n . B o z e
/
J r t t n tS u r gB r 2 0 0 1 ; 8 3 ; 1 0 5 - 2 1
Early S, Kay R, Tolo V: Childhood diskitis / Am Acad Ortbop Surg
2 0 0 3 ; 11 : 4 1 3 - 4 2 0 .
FernandezM, Carroll CL, Baker CJ: Discitis and venebral osteomyelitisin
c h i l d r e n :A n 1 8 - y e a rr e v i e w P
. edtatric2
s 0001105:1299-7304.
Garron E, VerhwegerE, Launay F, et al: Nonruberculousspondylodiscitisin
chrldren.J Pediat Orthop 2002;22:32j.-328.
Nussinovitch M, SokoloverN, Volovitz B, Amir J: Neurologic abnormaliries
in chrldren presenting with diskitis. Arch pediatr Adolesc Med 2002:

:::t:t1t"'

.: "t.:: t:.

i-'.

ira:r

:.J:!:;i-r+:,::-i1=:.r+1:i:;aia:i{Fffir!$i\A

in combination wrth rotation of rhe head/neckto the opposite

side. Torricolhs is not a diagnosis,but rather a manifestationof
a variery of underl,vingcondirions (Table 679-1). Most casesdiscovered at or near the time of birth representcongenitalmuscular torticollis (CMT). Although the etiologv is unknown, this
dcformity may result from abnormal positioning in utero and
involvescontractureof the srernocleidomastoid.
Muscle biopsies
and MRI scanssltggesrthat congenitalmuscular torticollis may
be causedby an intramuscularcompartmentsyndrome.Intrauterlne muscle injury from compressionand/or stretch may create
localized ischemia, which results rn fibrosis and contracture.
F:rn.rilialbasis for torticollis as well as hereditary muscle aplasia
have been reported.A conrracrureof the left srernocleidom;stoid
muscle reslrltsin rilt of the head ro the lefr and rotation to the
right, and vice versa. CMT is defined by the presenceof a palpable mass (fibrous rissue)within the substanceof the sterno-

679.1. ToRrrcol-rls
Torticollis is the term used to describe the clinical findines of
tilting (lateral bending) of the head/neck ro the risht or left"side

age) or a plain radiograph of the hip (4-5 mo of age).

679 I TheNeck r 2823

Ghapter
Torticollis in neonates may also result from congenital vertebral anomalies; anteroposterior and lateral radiographs of the
cervical spine are indicated when the typical clinical featuresassociated with congenital muscular torticollis are absent or if the
deformity does not respond to treatment. A stretching program
should be successfulin >90"/" of patients with congenital muscular torticollis, especiallywhen tieatment is starteJ within the
first 3 mo of life. For patients diagnosed late or those in whom
the stretching program has failed to correct the deformitS surgical releaseof the sternocleidomastoid is considered. Surgery can
be delayed until 1-1.5 yr of age to maximize spontaneous correction of plagiocephaly. Motion can be improved following surgical releaseeven up to early teens. Surgical management results
in adequate function and acceptable cosmesis in >90o/o of
patients- With early. diagnosis and treatment, surgery should be
requlreo rn a mrnonty ot cases.
The evaluation of torticollis becomesmore complex when the
typical findings associated with CMT are absent (mass and/or
contracture within the sternocleidomastoid). the usual clinical
responseis not observed, or the deformity presentsat a later age.
In such cases, a careful history and physical examination are
required, and often a consultation with an ophthalmologist
and/or neurologist will be helpful. Plain radiographs should be
obtained, and MRI of the brain and cervical spine will be required
in a subset of cases.The differential diagnosis is extensive (see
Table 579-l). Atlantoaxial rotatory displacement represents a
spectrum of rotational malalignment (subluxation to dislocation)
between the atlas (C1) and the axis (C2), and may best be
described as pathologic stickiness in the arc of joint motion.
Atlantoaxial rotary fixation is complete loss of motion that is
manifest as torticollis with loss of passive cervical rotation. The
malalignment may initially be reducible but after weeks to
months the deformity becomes fixed and irreducible. As such,
prompt diagnosis and treatment are essential. The condition is
most often secondary to infection/inflammation of the tissues of
the upper airway, neck, and/or pharynx (Grisel syndrome). Traumatic iniuries, usually minor, may also lead to the development
of rotatory displacement. This condition will occasionally complicate surgical procedures in the oropharynx, ear, or nose. Rotational malalignment at this joint is best evaluated with a CT scan,
in which axial images are obtained through the upper cervical
spine in different positions (right and left rotation). This study
not only establishesthe diagnosis, but also determines whether
the displacement can be reduced passively. A "fixed" displacement persists with the head in different positions. If the patient
is seen within a few days of the onset of symptoms, then a triai
of analgesicsand a soft collar may be attempted. Patients with
symptoms for more than a week are often admitted to the hospital for analgesia,muscle relaxants, and a period of cervical traction. If this fails to reduce the displacement, then halo traction
may be attempted. If the joint can be reduced, patients are typically immobilized for at least 6 wk in a halo vest. Patients with
a fixed deformity may require a posterior atlantoaxial fusion to
s t a b i l i z et h e a r t i c u l a t i o n .
Neurogenic torticollis is uncommon and results from tumors
of the posterior fossa or brainstem, syringomyelia, and ArnoldChiari malformation. In addition to the neurologic examination,
MRI of the brain and cervical spine is required to establish the
diagnosis. Paroxysmal torticollis of infancy is also uncommon
and may be due to vestibular dysfunction. Episodes may last
from minutes to days, and the side of the deformity may alternate. The condition is self-limited, and no specific treatment is
required other than ruling out other treatable diagnoses.Torticollis may also be seen in association with diskitis or vertebral
osteomyelitis, juvenile rheumatoid arthritis, cervical disk calcification, visual problems (strabismus due to paralysis of the
extraocular muscles), tumor-like conditions, and in patients
with cerebral palsy and chronic gastroesophagealreflux (Sandifer
svndrome).

SYNDROME
619.2o KIIPPEI-FEIT

tion of neck motion is seen in only about half of the patients.

There is a strong associationwith congenital abnormalities of the
including double collecting
genitourinary tract (3040%),
ryrt.-r, renal aplasia, and horseshoe kidney' Associated anomuii.r o..nt in the auditory system' neural axis, cardiovascular

minimally affected patients. Torticollis may be observed. Initial

evaluation should include anteroposterior, lateral, and oblique
views of the cervical spine. The characteristic finding is a congenital fusion of two or more vertebrae (failure of segmentation);
multiple vertebrae may be involved. Symptoms are more common
in adults than in children or adolescentsand include pain and/or
neurologic dysfunction. Painful degenerativechangesin the disks
and/or facet joints may result from an alteration in mechanical
stresses,and segmental hypermobility or instability may develop
at the mobile segmentsadjacent to fused segments.Excessivesegmental motion (instability) may become clinically evident as
radiculopathy or myelopathn and brainstem compression may
also occur. Spinal stenosis,either developmental or acquired, may
also result in pain and/or neurologic compression. Flexionextension lateral views may help to identify segments with excessivemotion, and MRI may be required if neurologic symptoms are present. Surgery may be required to decompress the
neural elements and/or stabilize segmentsof the cervical spine.

ANDlNSTABltlrlES
AtrlOmnUrS
679.30 CERVTCAL
One or more anomalies of the craniovertebral iunction and/or the
lower cervical spine (Klippel-Feil syndrome) may be seen in isolation or in assoiiation with other conditions (geneticsyndromes,
skeletal dysplasias, connective tissue disorders, metabolic diseases).These may be congenital, resulting from a mutation in the

2824r PARTXXXIr BoneandJointDisorders

Figurc (r7!)-1. C[nical picture of a .5vr old with Klippel-Feilsvndrome A, Nore short neck and low hairline. Radiographsof the cervical spine (8, flexion; C,
extension)demonstrarecongenitalfusion and evidenceof spinal instabilitv (arrow).
\From Drummond DS: Pediatriccirvical instability.In Veisel SE, Boden SD.
Y/isnecki RI ledir.rsi: seminarsin Spine.sargerrrphiladelphia,wB Saunders,1996, pp 292-309.\

provides the best bony detail and is useful in defining each

anomaly. MRI, including dynamic images in flexion andlxrension, is best for evaluating neurologic impingement. Symptomatic
rreatment may be helpful; however, parients with cervical instability and/or neurologic impingement require surgical decomp r e s s i o na n d / o r s t a b i l i z a r i o n .
a traumatic origin is suspected.
The symptoms and physicalfindings vary wirh the location of

D0WN SYNDBOME.Ligamentous hyperlaxity is a characteristic

feature of Down syndrome and may result in hypermobility or
instability at the occipitoatlantal or the arlantoaxial joints in
10-30% of patients (see Chapter 81). These parienrs may also
have coexisting congenital or developmental anomalies of the
cervical spine such as occipiralization of the atlas, atlantal arch
hypoplasia, basilar invagination, and os odontoideum. Instability of the C1-2 level is found in up to 407, of chrldrenwirh Down

ffusEs
SUETYPIS
Congenitol yefttror(bonyanomalieg
(rani0-oc(ipital
(0c(ipital
defects
vertebrae,
basilar
impression,o(cipital
dysplasias,
condylar
hypoplasia,
occipitalDed
atlat
(aplasia
Atlantoaxial
defects
ofatlas
process)
arch,aplasia
of0d0nt0id
(failure
5ubaxial
anomalies
ofsegmentation
and/or
fusion,spina
bifida,
spondylolBthesis)
ographic screeningsare required prior to parriciparion in Special
Ligonentous
or
Olyryp19s.The clinical diagnosis of neurologic dysfunction may
Conbined
ononolisfound
atbi(hasanelement
0fsomatogenk
aberration
be challenging, and subde findings such as decreased exercise
Syndmnic
disoders
e,
Down
syndrome,
Kltppel-Feil
syndrome,22q1
li
12deletion
tolerance
and gait abnormalities including increased tripping or
syndrome,
Larsen
syndrome,
Marfan
syndromg
Ehlers-Danlos
syndrome)
falling may be the earliest signs of myelopathy. Clonus a"a ityp.tAcquired frouno
reflexia may be identified on physical examination. The evaiuaI nfeaion(pyogenicl
gra
nulomatous)
tion of motor and sensory function may be quite difficult in this
Iunor(including
neurofi
bromatosis)
(ie,juvenile
lfiflonnototy
population, and in most patients,both clinical and radiographic
ondilions
rheumatoid
arthritis)
(i.e.,
kteochondrdyphios
(plain films, MRI) findingsare requiredto evaluaresuspec;d;euachondroplasia,
diastrophic
dyspla5ia,
metatr0pir
dysplasia,
sp0ndyl0epiphyseal
dysplasia)
rologic involvement.
(ie,mucopolysaccharidoseg
Sforage
disordus
Although hypermobility at rhe occipiroatlantal joint is present
(rickets)
ilteforor?
disordeb
in >507o of children with Down syndrome, most parients do not
(including
Miscellanuus
osteogenesis
post*urgery)
imperfeCa,
develop instability or neurologic symptoms. The relationships at

Chapter679 I TheNeck r 2825

and subluxation. C InstaFigure 679-2. Flexion (A/ and extension/B/ radiographsof a caseof Down syndromedemonstratingatlanto-occipitalhypermobility
bility and symptomswere relievedby an occipitoaxialarthrodesis.

this articulation are difficult to measure reliably on plain radiographs; an MRI may help to identify the significance of any
questionable radiographic findings. Of greater clinical concern is
the atlantoaxial joint. The atlanto-dens interval (ADI) is used to
diagnosehypermobility or instability. The spacebetween the dens
and the anterior ring of C1 (ADI) is measured on lateral radiographs in neutral, flexion, and extension (Ftg.679-21.
A normal ADI in children with Down syndrome is <4.5 mm'
Hypermobility is diagnosed with an ADI between 4.5 and
10 mm; an ADI >10 mm representsinstability and carries a significant risk of neurologic iniury. MRI is indicated to detect neurologic compromise in patients with radiographic instability.
Involvementbf the subaxial spine is lesscommon and is typically
encountered in the adult population of patients with Down syn-

and atlantoaxial
of platybasia,occipitocervic-al'
Figure 679-.3. Radiographsof the cervical spine in a child wirh 22q11,2 deletion synd.romeshowing evidence
In WeiselSE, Boden SD, Wisnecki RI [editors]:
instability.A, Neutral radiograph.B, Flexion. C, Extension.(From Iirummond DS: Pediatriccervicaiinstability.
Seminars in Spine Surgery. Phrladelphia,I0B Saunders, 1,996,pp 292-309 )

2826r PARTXXXII BoneandJoinrDisorders

a full level of activities. Those who are diagnosed with hypermobility should be restricted from contacr sports and other fiighrisk activities that might increasethe risk of trauma to the cerviial

Segal LS, Drummond DS, Zarotti RM, et al: Complications of posterior

arthrodesiso[ the cervical spine in patients who have Down syndrome.
/
Bore Joint Surg [Am] 1991;73(101:1547-1554.
SnyderEM, Coley BD: Limited value of plain radiographsin infant rorticol\s. Pedidtrics2006;118:e1779-e1.784.

SHOUTDER

patients, the most common being C2-3. Increased segmental

motion in the cervical spine is noted in more than halF of the
patients, and more than a third of patients have increased segmental motion at more than one level.
. lfith frequent occurrence of upper cervical spine variations in
rhe 22q17.2 deletion syndrome (Fig. 679-3), advanced imaging
oJ th upper cervrcal spine and regular follow-up of patients to
clarify their clinical course is recommended.

The shoulder joint is a ball-and-socket joint that differs from the

hip in that the glenoid (shoulder socket) is much smaller and more
shallow than the acetabulum (hip socket), and the humeral head
is much larger relative to the glenoid than the femoral head is to
the acetabulum. This difference provides the shoulder much

tlon.

Adams SBJr, Flynn JM, Hosalkar HS: Torticollisin an infant causedby hered_
itary muscle aplasia.Am J Orthop 2003;32:556-55g.
ChengJC, Tang SP,Chen TM, et al: The clinical presentationand outcome of
treatment of congenital muscular torticollis in rnfants_a study of 10g5
c a s e sJ. P e d i a t rS z r g 2 0 0 0 ; 3 5 : 1 0 9 1 - 1 0 9 6 .
ChengJC, \fong MW, Tang SP,et al: Clinical determinantsof the ourcomeof
manual stretching in the rreatment of congenital muscular torticollis in
infants: A prospectivestudy of eight hundred and twenty-one cases. Bone
J
Joint Surg Am 2001;83:679-687.

Dai L, Yuan w, Ni B, er al: Os odontoideum: Etiology, diagnosisand management.Surg Neurol 2000;53:105-109.

Drummond DS, Hosalkar HS. Treatment of cervical instability.In Clark CR
lediror): The Ceruical Spine, 4th ed. The Cervical Spine Research Society,
2005, pp 427447.
Guille J! Sherk HH: Congenital osseousanomaliesof the upper and lower
cervicalspine in children.J Bone Joint Surg Am 2002;g4:277_2gg.
Gupta AK, Roy DR, Conlon ES: Torricollis secondary to posterior fossa
tumors. / Pediatr Orthop 1996;16:505-507.

Pang D, Li V Atlantoaxial roratory fixation: part III of a prospectivestudy of

the clinical manifestation,diagnosis,managemenr,and turcom. of children
with atlantoaxial roratory fixation. Neurosurgery2005;57:9 52_972.
Pizzutillo PD, Voods M, Nicholson L, et al: Risk factors in Klippel_Feilsyn_
dr ome. Spine 1.994;1,9:27L0-21 1.6.
Ricchetti El StatesL, Hosalkar HS, et al: Radiographicstudy of the upper
cer-vicalspine in the 22q11.2 delerion syndrome. Bctne
J
Joint Surg Am
2004;86:775L-1760.

of the nerve roor from the spinal cord. Approximately 3040%

of untreated children may have residual di6cits.
Treatment.Clavicle and humerus fractures can mimic brachial
plexus palsy and must be evaluated. Physical or occupational
therapy for brachial plexus injuries should be instituted-at 3 wk

.Shoulderdysplasia and dislocation (analogous to developmental dysplasia of the hip) can occur as a result of muscle imbalancesin infants and older children, and may require arthroscopic
or open reduction and muscle balancing. Older children with
residual weakness in shoulder abduction and external roration
can benefit from muscles transfers. Osteotomies are reserved for
children with severely deformed glenohumeral joints and functional impairment from persistent shoulder internal rotation
contracture.

Ghapter580 r UpperLimb r 2827

high scapula and limited scapulothoracic motion. The scapula
originates in early embryogenesisat a level posterior to the 4th
cervical vertebra, but descendsduring development to below the
7th cervical vertebra. Failure of this descent, either unilateral or
bilateral, is the Sprengeldeformity. The severity of the deformity
deoends on the location of the scapula and associatedanomalies.
The scapula in mild casesis simply rotated, with a palpable or
visible bump corresponding to the superomedial corner of the
scapula in the region of the trapezius muscle. Function is generally good. In moderate cases,the scapula is higher on the neck
and connected to the spine with an abnormal omovertebral ligament or even bone. Shoulder motion, particularly abduction, is
limited. In severe cases,the scapula is small and positioned on
the posterior neck, and the neck may be webbed. The maiority
of patients have associated anomalies of the musculoskeletal
system, especially in the spine (including Klippel-Feil anomaly
with congential cervical vertebral fusions [see Chapter 679])'
making spinal evaluation important.
Treatment.In mild cases, treatment is generally unnecessary,
although a prominent and unsightly superomedial corner of the
scapula can be excised.In more severecases,surgical repositioning of the scapula with rebalancing of parascapular muscles can
significantly improve both function and appearance.
SH0UIDERDlSt0CATlON.Traumatic glenohumeral dislocation is
a common injury among adolescents, but is uncommon in
younger children (seeChapter 686.2). A fracture of the proximal
humerus physis is more common in young children. The dislocation is usually anterior and the result of forced abduction and
external rotation. The supporting ligaments, capsules, and
muscles are damaged during the dislocation, predisposing to
recurrent dislocation. The younger the age of the patient at the
time of initial dislocation, the more likely dislocations will recur.
Treatment.Following closed reduction of the dislocation, the
shoulder is immobilized in adduction and internal rotation for
4-6 wk. Thereafter, rehabilitation is instituted to regain range of
motion while strengthening the muscles that stabilize the shoulder. The high likelihood of recurrent dislocations in adolescents
provides an argument for early surgical repair of the damaged
capsule and ligaments to restore anatomic stability to the glenohumeral joint.

or pulled,elbow'The annular
. The pathologyof nursemaid's,
artiallytorn whenthe arm is pulled.The radialheadmovesdistheligamentis carriedinto thejoint'
en tractionis discontinued,
M: Children'sFractures,2nd ed. Philadelphia,JB Lippincott'
1 9 8 3p, 1 9 3 . )

annular ligament subluxations can occur' andthe parents should

avoid activities that apply traction to the elbows' Parents can
learn reduction maneuvers for recurrent episodes to avoid trips
to the emergency department or pediatrician's office' Recurrent
subluxation-beyond 5 yr ol age is rare. Irreducible subluxations
tend to resolve'spontaneously with gradual resolution of symptoms over days to weeks; surgery is rarely indicated'
PANNERDISEASE.Panner diseaseis a disorder of bone and carti-

ETBOW
The elbow joint is the articulation between the humerus proximally and the ulna and radius distally. Flexion and extension of
the elbow occur through the ulnohumeral and radiohumeral
articulations, and pronation and supination occur though the
radioulnar articulation. Unlike the shoulder, motion of the elbow
is limited by complex bony anatomn although stability of the
elbow relies on stout ligaments on the medial and lateral sides'
The elbow is prone to stiffness,with little tolerance to scar trssue
formation following an injury or surBery.
NURSEMAID'SEIBOW Nursemaid's elbow is a subluxation of a
lisament rather than a subluxation or dislocation of the radial
head. The proximal end of the radius, or radial head, is anchored
to the proximal ulna by the annular ligament, which wraps like
a leash from the ulna, around the radial head, and back to the
ulna. If the radius is pulled distally, the annular ligament can slip
proximally off the radial head and into the ioint between the
iadial head and the humerus (Fig. 680-1). The injury is typically

activities can allow resolution of early cases.Healing can sometimes be aided in more advanced cases by surgically drilling or
erafting the affected bone to promote vascular ingrowth' Once
ioor. b.-odi.thave developed ind are causing mechanical symptoms, arthroscopic or open removal is warranted'

WRIST
The wrist is the complex articulation between the radius and ulna
and the bones of tfe carpus. The radius and carpal bones are
irregularly shaped and precisely interlocked to allow both mobil-

2828r p13111Xl r BoneandJointDisorders

Passive stretching and splinting of a radially deviat
begun shortly after birth. In mild casesin which the
radius is only slightly short and the thumb is present and functional, conservative treatment can suffice. However, if the radius
is partially or totally absent, surgery is required to centralize the

GANGLI0N.
As a synovial joint, the wrist arriculationis lubricated

wrists into the development of manual skills from an early age.

HANDANDFINGERS
The hand, fingers,and thumb function as an intricate electrobiomechanical
devicewith tremendouspotentialfor function but
little tolerancefor perturbation.The handsof childrenfunction
as organsof explorationand are important tools for functional
and socialdevelopment.Hand injuriesare common in children,
and malformationsof the hand and upper limb are secondonly
to cardiacdefectsamongcongenitalanomalies.
FINGEBTIP
INJUBIES.
Young children are fascinatedwith door-

poplasia or
and hand is
'radial
club
the clubfoot

is normal and no displacedfractureexists,the nail neednot be

sYil0Roitt

CHARACTERISIICs

Holt-Oram
IAR

Heart
defects,most
comm0nly
atriai
seDtal
defe(ts
Thmmbocytopenia
absent
radius
syndrome;
thrombo(ytopenia
prcsent
atbirth,
butimproves
over
time

VATTERL

Vertebral
(ardiac
abnormalities,
anal
atresia,
abnormalities,tracheoesophaqeal
fistula,esophageal
atresia,
renal
defects,
radial
dysplasia,
lower
limbabnormalities
Fanconi
anemia
Aplastic
anemia
notpresent
atbirth,
develops
about
6 yroflife;fatal
without
bone
marrow
transplant;(hromosomal
breakage
challenge
testavailable
forearly
P0LYDACTYLY.
Polydactylyis definedas rhe presenceof one or
diagnosis
moJe supernumerarydigits or parts of digits. polydactyly is
(ornwall
komTrumble
philadelphia,
R(edit06):
I Budoff.J,
corc
ffiowkdge
n othopedks:
Hlnd,
ilb\wshujder
flsevie,2005, defined.as
postaxial,occurringon the ulnar 6order oi the hand;
p425

preaxial,occurringon the radial border of the hand; or central,

Chapter681 r ArthlogryPosisI 2&19

including the thumb-in-palm deformity of cerebral palsy. Similar
findings in the fingers are much less common and can be associated with inflammatory conditions such as juvenile rheumatoid
arthritis.

occurring between adjacent fingers. Postaxial polydactyly often

displays autosomal dominant transmission and can involve both
hands and both feet. In mild cases,the extra digit may be a skin
tag or a floating nubbin with bone and a nail but connected to
the hand only by a thin stalk. Such digits can be suture ligated
in the nursery, although a remnant may remain that requires
formal surgical excision. Postaxial polydactyly may involve an
entirely duplicated small finger, requiring formal amputation and
'1-.
reconstruction, usually at yr of age. Preaxial polydactyly, or
thumb duplication, varies from a duplicated thumbnail to an
entirely duplicated thumb with extra phalanges. The underlying
musculoskeletal anomaly is complex and requires formal surgical reconstruction and combining of parts from each thumb.
Central polydactyly is a complex anomaly that is associatedwith
deformities of the "normal" fingers and requires formal surgical
reconstruction. Polydactyly can be associatedwith a wide variety
of syndromes(Table 680-2).
During development, the hand begins as a paddle,
SYNDACTYTY.
and apoptosis between developing digits allows the creation of
individual fingers. Syndactyly is a failure of this separation of
adjacent digits. Syndactyly can be classified as simple, with only
skin conjoined, or complex, with skin, tendon, and bone conjoined. Syndactyly can also be classifiedas partial, with only the
proximal aspect of the finger conjoined (webbed), or complete,
with fusion along the entire lengths of the digits including the
nails. Syndactyly can be an isolated finding or associatedwith a
wide variety of syndromes (Table 580-3). Syndactyly between
digits of unequal length (thumb and index, index and middle, ring
and small) causestethering and deformity of the longer digit and
should be surgically separatedwithin the first few months of life.
Syndactyly between the middle and ring fingers can be separated
later in life, usually after L yr ol age.
The flexor tendons for the thumb
TRIGGER
THUMB AND FINGERS.
and fingers pass through fibrous tunnels made up of a series of
pulleys on the volar surface of the digits. These tunnels, for
reasons that are not well understood, can become tight at the
most proximal, or 1st annular, pulley. Swelling of the underlying
tendon occurs, and the tendon no longer glides under the pulley.
In children, the most common digit involved is the thumb. It has
classicallybeen thought to be a congenital problem, but prospective screeningstudies of large numbers of neonateshave failed to
find a single case in a newborn child. Trauma is rarely a feature
of the history, and the condition is often painless. Overall function is rarely impaired. A trigger thumb typically presents with
the inability to fully extend the thumb interphalangeal joint. A
palpable nodule can be felt in the flexor pollicis longus tendon at
the baseof the thumb. Other conditions can mimic trigger thumb,

Apert
syndr0me
(arpenter
syndrome
0eLanqe
syn0rome
syndrorne
Holt-0ram
syndrome
0rofaclodigltdl
Polysyndartyly

21
Ir somy
Fetal
hydantoin
syndrome
edlsyndrome
Laurence-Moon-B
panctyopenia
funconi
13
Trisomy
Irisomy
18

underlying inflammatory process and in some cases surgical

decomoressionof the flexor sheath.

Chan O, Hughes T: Hand. Br Med J 2005;330:1'073-1075.

Dao KD, Shin At Billings A, et al: Surgical treatment of congenital syndactyly
of the hand. J Am Acad Orthop Surg 2004;12:3948.
Farsetti P, rJ7einsteinSL, Caterini R, et al: Sprengel'sdeformity: Long-term
follow-up study of 22 cases.J Pediatr Orthop B 2003;12:202-210.
Good CR, MacGillivray JD: Traumatic shoulder dislocation in the adolescent
athlete: Advances in surgical treatment. Curr Opin Pediatr 2005;1'7:25-29.
KobayashiK, Burton KJ, Rodner C, et al: Lateral compressioninjuries in the
oediatric elbow: Panner's disease and osteochondritis dissecans of the
iapitellum. J Am Acad Orthop Surg2004;12:246-254.
Kozin SH: Upper-extremity congenital anomalies. J Bone Joint Surg Am
2003$5:r564-7576.
McAdams TR, Moneim MS, Omer GE Jr: Long-term follow-up of surgical
release of the A(1) pulley in childhood trigger thumb. J Pediatr Orthop
2002l.22:4143.
Pondaag V, Malessy MJ, van Dijk JG, Thomeer RT Natural history of obstetric biachial plexus palsy: A systematic teview. Deu Med Child Neurol
2004.46:1'38-144.
Frey B: Ulnar polydactyly. Plast Reconstt Surg
Rayan GM,
20 0'1.
t107 :l 44 9-l 4 5 7'
lWang AA, Hutchinson DT: Longitudinal observation of pediatric hand and
wrist ganglia. J Hand Surg [Am] 2001';26:599-602'$Taters
PM, Update on management of pediatric brachial plexus palsy' ,l
Pediatr O rth oP 2005;25:1'16-126.

DEFINITION

births.Threemain groupsinclude
ClassicAMC in which the limbs are primarily involvedand the
musclesare deficientor absent(amyoplasia)(Fig.581-2)'
Arthrogryposisin associationwith major neurogenic(brain,
spinal cbrd, anterior horn cell, or peripheralnerve)or myopathic (congenital muscular dystrophS myopathy' toxic
myopathy)dysfunction,
Arthrogryposisin associationwith other major anomaliesand
rp..fri syndromessuch as diastrophicdysplasiaand craniocarpotarsaldystrophy(Table681-1).

2830| PARTXXXIr BoneandJointDisorders

ARTHROGRYPOSIS
DUE
TONERVOUS
sYSTEM
DISORDERS
' Focal
anlerior
hornrelldefi(ien(y
. Generalized
anterior
horncelldeficrency
. Structuralbraindisorderidamage
. Uncertain
location
(Spastic
conditions
areexduded)

*
i::

DISTAI.
ARTHROGRYPOSIS
SYNDROMES
. Type
I domrnant
distal
. Iypelladominant
(Gordon
distal
syndrome)
. Iypelledistal
' Digitotalardysmorphism
. Trismuspseudocamptodactyly
. Distal
distriburion,
typen0tspe(ifed

t?
;r

PTERYGIUM
SYNDROMES
. Multiple
pterygium
syndrome
. Lethal
ptefygium
rnultiple
syndrome
. Popliteal
pterygium
syndrome
' Ptosis,
pterygia
xoiiosis,
. Antecubital
(Liebenberg)
webbing
syndrome
MYOPATHITS
. Emery-Dreifusmusculardystfophy
. Hypotonia,
myopahy,
mildcontra(tures
ABNORMAI-ITIES
OFJOINTS
ANDCONTIGUOUS
TISSUE
. [0ngenital(0ntracuralarachnodactyly
' Freeman-Sheldonsyndrome
. Laxity
0rhypertonicity
withintrauterine
disloratron
andcontractures
' Larsen
syndrome
. 5pondyloepimetaphyseal
dysplasia
withjointlarrty
. Trisomy
posilon
18,extended
breech
withbilateral
hipdislocation
. Siblings
withbifidhumeri,
jornt
hypertelorism,
dndhipandknee
dislocations
SKETETAt
DIsORDERS
. Dlastrophicdysplasia
. Parastremmaticdysplasia
' Kfiendysplasia
' Metatropic
dysplasia
. [ampomelic
dysplasia
. Schwartz
syndrome
. Fetal
akohol
syndrome
withsynostoses
. 0ste0genesis
imperfecta
withb0wrngk0ntra(tures
II'ITRAUTERI
NVMATTRNAT
IAOORS
. Fetal
alcohol
syndr0me
withcontractures
. Infections
. Untreated
maternal
systemic
hpuserythematosus
. Intrauterine
(onstraint
Fetal
. Deformity
(pressure)
. Amniotic
flurd
leakage
' Muhiple
preqnancies
. Intrauterine
tumon
. Disruption
(bands)
MrSCH.t
ANt0US
. Pseudotrisomy
l8 withcontractures
. Robertspseudothairdomidesyndrome
. Deafnes
wrthdistal
contractures
. VAITERL
association
. Mulriple
abnormalities
andcontra(tures
nototherwise
speofred
. ARi-

5INGtE
JOINT
. Campomeltc
F i i l u r e ( r $ l - l . . J o i n r c o n t r a c t u r e s , l a c k o f c r e a s e s i n s k i n , a n c l d e e p d i m p. l eSymphangylism
sar
' "Irigge/'finger
j o i n t s a r e c h a r a t e r i s r i co f a r t h r o g r y p o s i s(.F r o m H o s a l k a r H S , M o i o z L ,
*Afthroqryposts,
Drummond DS, Finkel R: Neuromusculardisordersof infancy and childhood
rnal
t|]bular
a(id0sit
ch0lestasr
and arthrogryposis. In l)ormans fP [editorl: pediatric Orthopedics: C)ore
Modifred
fromlt4ennen
U,VanHestA, Ezakl
[48,et al.Arthrogryposis
multiplex
congenta
/ Hond5urq[Br]
2005;30:5:468
474O 2005The
Knou,ledgein Orthopedics.Irhiladelphia,Mosby, 200-5.)
British
S0riery
forSurqery
0frheHand

r 2831
Chapter
68,|r Arthrogtyposis
the primary condition is patchy degenerationof the anterior horn
cells occurring in the early months of gestation. A pregnant
mother treated with curare for severe tetanus gave birth to an
arfhrogrypotic baby.

DIAGNOSIS

Figure ('ti1--3"Fixed flexion of the kneesin a boy with arthrogryposismultip l e x c o n g e n i t a(.F r o m H o s a l k a rH S , M o r o z L , D r u m m o n dD S , F i n k e lR : N e u romuscular disorders of intancy and childhood and arthrogryposis In
DormansJP lcditorl: PediatricOrthopedics:Core Knotuledgein Orthopedics.
P h i l a d e l p h i aM, o s b n 2 0 0 5 . )

Clinical examination remains the best modality for establishing

the diagnosis of arthrogryposis. We have found a few factors that
are often useful in making a diagnosis. Although not absolute criteria, they are helpful when considered in combination.
Unlike paralytic disorders, ioint deformities of AMC are
usually stiff or rigid from the beginning with incomplete passive
range of motion. Deformities of arthrogryposis tend to be symmetf lc.
The severity of contractures tends to increase as one reaches
the periphery of the limb. The more proximal joints tend to be
lessinvolved, and the trunk is frequently spared. The most severe
deformities tend to occur in the hands and feet.

FEATURES
CLINICAL
Multiple rigid joint deformities are present with defectivemuscles
but normal sensation.There is rigidity of severaljoints in each
case resulting from both short tight musclesand capsular conrractures. Pterygium may be present on the flexor aspectsof contracted joints (Fig.681-3). There is often an absenceor fibrosis
of musclesor rnusclegroups. There is normal intellectualdevelopment in most cases.All four limbs are involved in the classic
form (AMC), but the condition can also occur in the upper or
lower limbs. An autosomaldominant variant called distal arthrogryposisinvolvesrhe hands and feet with severedeformation but
wirh only minor contracturesmore proximally; scoliosisis a possible development.In addition to the multiple joint contractures,
the lack of skin creases(cylindrical or tubular limbs) and deep
dimples over the joints are very characteristic(Fig. 681-4). There
is dislocation of joints, most commonly the hip but occasionally
the knee. The trunk is rarely affected. Other congenital anomas cryptorchidism, hernias, and gastroschisismay
::::,r.r".n

ETIOLOGY
AMC is multifactorial in etiology. Factors liable to produce
immobility of the fetus may contribute to congenital contractures.
Some of theseinclude structural abnormality of the uterus (bifid,
large fi broids), oligohydramnios,increasedintrauterinepressure,
mechanical compression of the fetus, weak fetal movements,
breech presentation, and prematurity. Inflammatory or infective
etiology has also been postulated,including inflammation in the
joint, muscle, spinal cord, or brain; rubella in early pregnancy;
and infection with unknown viruses.A dominant theory is that

. h a r a c t e r i s t i lca c k o f s k i n c r e a s e sa n d t u b u l a r l j m b s . ( F r o m
F i g u r c ( . 8 1 - - 1C
Hosalkar HS, Nloroz L, Drummond DS, Finkel R: Neuromusculardisorders
of infancy and childhood and arthrogryposis.In Dormans JP leditor]: Pedldtnc ()rthopedics: Core Knowledge in Orthopedics. Philadelphia,Mosby,
2005.)

and nerve conduction studies are of limited value and have been
used to dif{erentiate the peripheral neuropathic from the myovariants.
nathic
'
A skeletal muscle biopsy is needed when a primary myopathic
disorder is suspected,unlessgenetic testing can establish the diagnosis by molecular testing of DNA from peripheral blood' Plasma
creatine kinase estimation may be done to exclude myopathic
disorders. This is best checked on the 3rd day of life or after, once

tures may overlap in the same specimen. The periarticular soft

tissues are fibrotic. Genetic consultation, with chromosome
analysis and collagen studies, should be consideredin casesin
which a distinct peripheral neuromuscular disorder is not readily
apparent.
-The
diffet.ntial diasnosesare noted in Table 681-2.

ti1
;]rt,*ri-ii:

ilif ii'ql.tiliAt illAil.l05Ei

dlsotders
bifida
andspinal
Spina
Myelodysplasia
' a r r odl- d' - r .b dd' g e n e s i '
atroPhY
muscular
5pinal
(toxic,
infectiout
Fetaneuropahy
myOtOnic
dystrophy
[ongenita
Myopathic
mus[u
ardystropnY
[ofgen]tal
m)/oPath}/
Fekl/congenital
gravis)
wrthmyasthenra
frommother
transfer
ofantibody
a (passive
myasthen
Fetal
(0nnelti\]e
Martan
syndrOme
tissle
Danlos
syndrome
[hlers
syndrome
Mrscellaneous Freeman-Sheldon
Turner
syndrome
rynd'ome
Idwad
syndrome
Pt.'ryqium
dwarfism
DiastroPhic

c
Neurogrn

2832r PART)(XXl r BoneandJoint Disorders

PROGNOSIS
The clinician should be able to derive a general prognosis and
treatment plan once the diagnosis of AMC is established.There
may be a few functional motor movements as one reaches the

With a coordinated and team approach in management, there

will often be little deterioration from the condition at birth. There
is frequently central sparing and a relatively normal trunk.
The child with normal central nervous sysrem findings can be
expected to have reasonably normal intelligence atrd, with
enough motivation, can contribute to successfulmanaqement.

PRINCIPTES
OFORTHOPEDIC
MANAGEMENT
OFPATIENTS
WITHARTHROGBYPOSIS
AND
MULTIPTE
GONGENITAT
CONTRACTURES

balance should be possibly established if there are functioning

muscles available for transfer. Recurrenceof deformity is the ruli
because the dense, inelastic soft tissues about the ioints do not
properly elongate with growth. These structures are considered

In the final stage, tendon transfers are occasionally required to

.
bring moto.r power to a joint that has been put to its-optimal
position. The elbow joint is well suired to tendon transfeis and
has been widely noted to give satisfactory results.

r-owER
uMBs

Figure 681-.5.Ilizarov ixation devicefor correctionof ankle contracture.

Courtesyof Dr. RichardDavidson,Children'sHospitalof Philadelphia.

quentl, a congenital verrical talus deformity. The goal of treatment is conversion of the rigid deformed foot into a rigid plantigrade foot.
Correction of the hindfoot takes precedence over the forefoot.
Serial stretching (casting)may sometimesproduce a degreeof correction. Once it is clear during the course of treatment that conservative treatment will not be successful, surgery should be
considered, preferably when the child is ready to walk.
An extensiue posterornedial and posterolateral release is recommended. If the foot fails to correct with even the most exten-

neglected or relapsed equinovarus deformity, correction can be

best obtained by triple arthrodesis. In rare casesof recurrence of
the de-formity after triple arthrodesis (at the level of the ankle),
a pantalar arthrodesis may be offered by an easy conversion of
the triple arthrodesis.
ommon presentations of the knee deformity,
ed extension, should be initially treared with
and splintage. The goal is to get the knees
them that way by bracing. Extension of the
knee is considered the key to later walking. If a flexed knee is
neglected, postural hip flexion contractures are likely to ensue.
Combined contracture in both hips and knees is not compatible
with good gait.
. Nonsurgical management: Manipulation and plaster casting in
the younger child have been successfulin a large population of
our patients. It is importanr to note that although the arc of
motion is changed to a more extended position, the range is not
increased. Even if complete extension cannot be obtained, the
knee joints are usually stable and mild flexion deformities are
quite compatible with a good gait pattern.
Surgical management: Deformities not responding to softtissue stretching may need surgical intervention. It is advisable to
plan the timing of knee surgery in keeping with the treatment

Ghapter681 r ArthrogryPosisI 28:|:|

plan for the foot. For example, if the foot requires immobilization with the knee flexed, then the knee flexion correction should
be staged after the foot management. On the other hand, if the
knee is in fixed extension, it is better to correct the knee extension before operation on the foot, so that the foot can be immobilized with a flexed knee.
Fixed hyperextension of the knee may respond reasonably well
to serial stretching and casting. In severecasesthat fail to respond
to stretching, an extensivemuscular releasewith quadricepsplasty
may be necessaryto correct the knee position. Splintage and knee
support are likely to be required on a long-term basis. The
llizarov fixator again provides a useful alternative to surgical
releaseor in casesof failed surgery,especiallyin the older patient.
Hip Joint. A common finding at birth in arthrogrypotic patients
is stiffness of the hips in flexion, abduction, and external rotation. The two most common involvements of the hips are fixed
contractures and hip dislocation.
It is important to correct the knee deformity before attempting
any surgical intervention and correction at the hip. r07ith knee
correction at an early stage, the results of hip deformity correctlon are encouraglng.
Surgical treatment:

bs should be considered as a unit. The

the arc of ioint motion can be changed but
be remembered. A reasonable expectation
at the end of treatment is that the patient should ideally be able
to move one hand to his or her mouth and the other to his or her
anus, but still be capable of opposing both hands. This is important to consider beiause children with severe hand deformities
and weakness depend on the integrated use of both hands
(bimanual opposition) to perform any task that- normal people
do with one^hand. In addition, he or she must be able to push
him- or herself out of a chair.

Growing child: Full correction is not easily obtainable with softtissue release procedures. Recurrence is usually unavoidable
with skeletal growth.
Skeletally ffid.turechild:lf the child is able to ambulate with compensatory lordosis, it is best to wait until skeletal maturity and
then hope for lasting correction with subtrochanteric osteotomy.
Arthrogryposis may lead to unilateral or bilateral dislocation
of hips. Dislocations are usually stable and, if the pelvis is well
balanced, are also consistent with a good gait. Treatment of hip
dislocation is often not easy becauseclosed reduction invariably
fails and stiffness and persistent flexion deformity usually follow
open reduction. Diagnosis can be difficult clinically becausethe
marked stiffness may be a limiting factor for demonstrating the
hip instability clinically. If the hips are dislocated, in most cases,
they are not reducible on abduction and should not be splinted
if irreducible. Splinting in such casesmay lead to avascular necrosis. Bilateral dislocations tend to be high and stable, are usually
symmetric, and tend to have a fatly balanced pelvis. This is often
consistentwith a good gait, and it may be advisable to leave them
alone becauseit is often not possible to get a satisfactory result
on both sides and in fact may lead to more stiffness with a high
chance of redislocation. In casesof unilateral dislocation, there
is a risk of progressive pelvic obliquity and secondary scoliosis.
'We
therefore believe it is often worth reducing the dislocated hip,
especially in the infant and the younger child. Open reduction
should be done as soon as the child is healthy enough and knee
flexion contractures have been controlled. Excessivedelays make
the procedure more technically demanding and the reduction
more difficult to achieve.
UPPERLIMBS. Unlike management of lower limbs where independent walking is the main goal, management of upper extremities in arthrogryposis requires considerable caution becausethe
prognosis for successful treatment is more dependent on the
extent of deformity and on the patient's intelligence.The minimal
requirements for the patient are abiiity to feed and attend to personal hygiene.
Again, in contrast to the lower limbs where surgery cannot be
postponed due to risk of delayed walking, operations on upper
limbs can be postponed for several years. Interestingly, arthrogrypotic children develop a remarkable ability to get about well
*ith theit upper limbs in spite of the complexities of these deformities, developing a surprising amount of dexteritS and therefore
surgical intervention, if any, should be weighed very carefully in
these cases.

are fixed extension contracture and fixed flexion contracture'

the active extension mechanism while intending to improve acttve

flexion. Passiveflexion can be surgically achieved by a posterior
soft-tissue releaseof the elbow, lengthening of the triceps' and a
posterior capsular and collateral ligament release. This can
i.rtor. a uery useful arc of motion, and further procedures may
not be even necessaryin most cases. In candidates in whom a
value of increasedactive flexion can be established' active power
could be provided in multiple ways including a Steindler flexormaior.
'plasty anJ transfer of the triceps or pectoralis
Elbow and forearm soft-tissuecontractures can be successfully

consistency with the principle that the severity,of the

nd deformity increasestoward the periphery of limbs
he more central or proximal areas are less involved, a

2834r p4j1 1111 I BoneandJointDisorders

Paralytic Scoliosis. Long paralytic scoliotic curves are some-

Halt JG: Geneticaspectsof arthrogryposis.Clin Orthop 7985;194:44-53.

Hall JG: Arthrogryposis multiplex congenita: Etiology, genetics,classification,
diagnostic approach, and general aspects. / Pediatr Orthop 1997;6:
1.59-1.66.
Hosalkar HS, Moroz L, Drummond DS, Finkel R: Neuromusculardisorders
of infancy and childhood and arthrogryposis. In Dormans J @ditor): pediatric Orthopedics: Core Knowledge in Orthopedics. Philadelphia, Mosby,
2005, pp 454482.
Mennen U, Van Heest A, Ezaki MB: Arthrogryposis mulriplex congenita.
/
Hand Surg [Br] 2005;30:468474.
Murray C, Fixsen JA: Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). J pediatr Orthop
1.997;6:186-191.

younger children, although surgical management may be necessary in progressivecases.

frequently
to femoroI hip defor. The trunk
can then be kept supple and straighr.

Abu-Sa'da O, Barbar M, Al-Harbi N, Taha D: Arthrogryposis renal tubular

acidosisand cholestasis(ARC) syndrome:Two new casesand review.CIin
Dermatol 2005;14:797-79o.
Brunner R, Hefti F, Tgergel JD: Arthrogrypotic yoint conrracture at the knee
and the foot: Correction with a circular frame. J pediatr Orthop
1 9 9 7 ; 6 : 7 9 2 - 1 , 9. 7
BurglenL, Amiel J, Violet L, et al: Survivalmotor neuron genedeletionin the
arthrogryposismultiplex congenita-spinalmuscularatrophy association.
/
Clin Inuest'l 996;98:1 7 30-1 1 32.
FixsenJ: Arthrogryposis multiplex congenita.In BensonMK, MF Macnicol
MF, Parsch K (editors): Children's Ortbopaedicsand Fractures.philadelphia, Churchill I-ivingstone,2002, pp 293-298.

Trauma is a leading causeof death and disability in children older

than 1 yr. Several factors make fractures of the immature skeleton different from those involving the mature skeleton. The
anatomy, biomechanics, and physiology of the pediarric skeletal
system are different from that of adults. This results in different
fracture patterns (Fig. 682-1), diagnostic challenges, and management techniques specific ro children to preserve growth and
Iunctron.
- Epiphyseal lines, rarefaction, dense growth lines, congenital
fractures, and pseudofractures appear on radiographs, which
could confuse the interpretation of a fracture. Most lractures in
children heal well with indifferent rrearment; that has led the
unwary to neglect the fact that other fractures terminate disas-

Illustration of fracture patterns. A, Longitudinal

rallel to bony axis. B, Transversefracture line perony axis. C, Oblique fracture line at angleto bony
fracture line runs a curvilinear course to the bony
axis. E, Impacted fractured bone ends compressed together. f;,
Comminuted fragmentation of bone into three or more parts. G,
Greenstick bending of bone with incomplete fracture of convex
side. H, Bowing bone plastic deformation. I, Torus buckling fracture. (From Vhite N, Sty R: Radiologicalevaluation and classification of pediatric fractures. Clin pediatr Emers Med
2002:3:94-105.\

Ghapter682 I CommonFracturesI 2835

rapidly and in greater amounts. The other factors are a disproportionately large head, pliable rib cage, unprotected large and
small bowel, and open epiphyseal plates in children. The pediatric bone has low density and more porosity. The low density is
due to lower mineral content and the increased porosity due to
increased number of haversian canals and vascular channels.
These differencesresult in a comparatively lower modulus of elasticity and lower bending strength. The bone in children may fail
either in tension or in compression;the fracture lines do not propadults, and hence there is less chance of comminuted
?r-rXl."n]"
Joint injuries, dislocation, and ligament disruptions are infrequent in children. Damage to a contiguous physes is more likely.
Interdigitating mammillary bodies and the perichondrial ring
enhance the strength of the physes. Biomechanically, the physes
are not as strong as the ligaments or metaphyseal bone. The
physis is most resistant to traction and least resistant to torsional
forces. The periosteum is loosely attached to the shaft of bone
and adheres densely to the physeal periphery. The periosteum is
usually iniured in all fractures, but it is less likely to have complete circumferential rupture due to its loose attachment to the
shaft. This intact hinge or sleeveof periosteum lessensthe extent
of fracture disolacement and assists in reduction. The thick
periosteum may also act as an impediment to closed reduction,
particularly if the fracture has penetrated the periosteum or in
reduction of displaced growth plate.

what less important than it is in adults (Fi1.682-21. The 3 major

factors that have bearing on the potential for angular correction
are skeletal age, distance to the ioint, and orientation to the ioint
axis. The rotational deformity and angular deformity not in the

OVERGROWTH
Physeal stimulation from the hyperemia associatedwith fracture
healing causesovergrowth. It is usually prominent-in long bones
s.rch ai rhe femur. The growth acceleration is usually present for
6 mo to 1 yr following the injury and does not present a continued progressiveovergrowth unless complicated by a tate arteriovenous halformation. Femoral fractures in children younger

0FPEDtATRtc
682.1o Uuour CHRnncrrRrsncs
FRncruRrs
REMODELING
FBACTURE
Remodeling is the 3rd and final phase in biology of fracture
healing preceded by inflammatory and reparative phase. This
occurs from a combination of appositional bone deposition on
the concavity of deformity, resorption on the convexity, and
asymmetric physeal growth. Thus, reduction accuracy is some-

associatedwith use of implants or fixation hardware that may

cause chronic stimulus for longitudinal growth.

DEFORMITY
PROGBESSIVE
Iniuries to the physes can be complicated by progressive.deformities with growth. The most common cause is complete .or
partial closuie of the growth plate. As a consequence,angular

Pediatric ArthoFigure 682-2. Remodelingin children is often extensive,as in this proximal tibial fracture 1Al and as seen1 yr later (B). (From Dormans lP:
pedics:Introduction to Trauma. Philadelphia,Mosby, 200.5,p 38.)

2836r PART)O(Xlr BoneandJoint Disorders

BAPID
HEATING
Children's fractures heal quickly compared with those of adults.
This is due to children's growth porential and thicker, more active
periosteum. As children approach adolescenceand maturity, the
rate of healing slows and becomessimilar ro rhat of an aduli. The
rapid healing has a downside, causing refractures.

o PEDtATRtc
pnrrrnrus
682.2
FnRcruRr
The different pediatric fracture parterns are the reflection of a
child's characteristic skeletal rytt.-. The majority of pediatric
fractures can be managed by closed methods and Leal well.

PLASTIC
DEFORMATION
Plastic deformation is unique to children. It is most commonly
seen in the ulna and occasionally the fibula. The fracture occurs
due to a force that produces microscopic failure on the tensile
side of bone and does not propagate ro rhe concave side. The
concave side of bone also shows evidence of microscooic failure

Figure682-4.Plasticdeformation
is a microfailure
in tensionwithoutvisible
fractureline. (Courtesyof Dr. John Flynn,Children'sHospital,philadelphia,
PA.)

in compression. The bone is angulated beyond its elastic limit,

but the energy is insufficient to produce a fracture. Thus, no fracture line is visible radiographically (Fig. 682-4). The plastic deformation is permanent, and a bend in the ulna of <20 degreesin a
4 yr old child is expected to correct with growth.

BUCKLE
ORTOBUS
FRACTURE
Figure
_682-3.MRI with gradient echo sequence,illustrating distal femoral
physeal bar. (From Dormans JP: pediatric Ortbopedics: Introduction to
T r a u m a .P h i l a d e l p h i aM, o s b y , 2 0 0 5 , p 4 3 . )

A compression failure of bone usually occurs at the junction of

the metaphysis and diaphysis, especially in the distal radius (Fig.
682-5). This injury is referred to as a torus fracture becauseof

FracturesI 2837
Ghapter
682 I Common

Figure 682-.5. Buckle fracture is a partial failure in compression:anteroposterior/A) and

lateral (B) radiographsof the distal radius. (From Dormans JP: Pedi,ttric Orthopedics:
Introduction to Trauma Philadelphia,Mosbn 2005, p 37.)

its similarity to the raised band around the baseof a classicGreek

column. They are inherently stable and heal in 3-4wk with simple
immobilization.

GREENSTICK
These fractures occur when the bone is bent, and there is failure
on the tensile (convex) side of the bone. The fracture line does
not propagate to the concave side of the bone. The concave side
shows evidence of microscopic failure with plastic deformation.
It is necessaryto break the bone on the concave side as the plastic
deformation recoils it back to the deformed Dosition.

FRAGTURES
EPIPHYSEAT
The injuries to the epiphysis involve the growth plate. There is
always a potential for deformity to occur, and hence long-term
observation is necessary.The distal radial physis is the most frequently injured physis. Salter and Harris (SH) classified epiphyseal injuries into 5 groups (Table 682-1 and Fig' 682-6). This
classificationhelps to predict the outcome of the injury and offers

FRACTURES
COMPLETE
Fractures that propagate completely through the bone are called
complete fractures. These fractures may be classified as spiral,
transverse,or oblique, depending on the direction of the fracture
lines. A rotational force usually creates the spiral fractures, and
reduction is easy due to the presenceof an intact periosteal hinge.
Oblique fractures are in the diaphysis at 30 degreesto the axis
of the bone and are inherently unstable. The transversefractures
occur following a 3-point bending force and are easily reduced
by using the intact periosteum from the concave side.

I
ll
ill
IV

cartilage
cellcolumns
degenerating
themetaphyses
through
butextendrng
a p0rtiof0fthephysis
Fracture
through
and
theepiphysis
extending
through
ofthephysis
through
a portion
Fracture
intothejoint
physis,
andepiphysis
Fracture
across
themetaphysis,
tothephysis
Irushin]ury

2838r PARTXXXII BoneandJointDisorders

Figurc 682-6. Salter-Harris classification

of physealfractures,types I-V.

involve the articular surfaceand require anatomic alignment to

prevent any stepoff and realignthe growth cellsof the physis.SH
type V fracturesare usually nor diagnosedinitially. They present
in the future with growth disturbance.Other injuries ro rhe epiphysis are avulsion injuries of the tibial spine and muscle artachments to the pelvis. Osteochondralfractures are also defined as
physeal injuries thar do nor involve the growth plate.

CHITD
ABUSE
The orthopedic surgeon sees30-50% of physically abusedchildren. Child abuseshould be expectedin nonambulatory children
with lower extremiry long bone fracrures (seeChapter 36). No
fracture pattern or types are pathognomonic for child abuse;any
type of fracture may result from nonaccidentaltrauma. The fractures that are suggesriveof intentional injury include femur fractures in nonambulatory children, distal femoral metaphyseal
corner fractures,posterior rib fractures,scapularspinousprocess
fractures, and proximal humeral fractures. A skeletal survey is
essentialin everysuspected
caseof child abuse,which may demonstrate other fractures in different stagesof healing. Radiographically, some systemicdiseases
may mimic signsof child abusesuch
as osteogenesisimperfecra, osteomyelitis, Caffey disease, and
fatigue fractures. Many hospirals have a multidisciplinary ream ro
evaluateand treat patients who are victims of child abuse.It is
mandatory to report these casesto social welfare agencres.

682.3o UpprnExrRrmlry
FRRcruRrs
PHATANGEAT
FBACTURES
The differentphalangeal
fracrureparrerns
in childreninclude
physeal,diaphyseal,and tuft fractures.The mechanismof injury
is a direct blow to the finger or typically a finger trapped in a
door (see Chapter 580). Crush injuries of the distal phalanx
presenr with severecomminution of the underlying bone (tuft
fracture), disruption of rhe nail bed, and significarusoft-rissue
injury. These injuries are best managed with antibiotics, retanus
prophylaxis, and irrigation. A mallet finger deformity is the
inability to extend the distal portion of the digit and is causedby
a hyperextensioninjury. It representsan avulsion fracture of the
physis of the distal phalanx. The treatment is splinting the digit
in extensionfor 3-4 wk. The physealinjuries of the proximal and
middle phalanx are similarly treared with splint immobilization.
Diaphysealfracturesmay be oblique, spiral, or transversein fracture geometry.They are assessed
for angular and rotational deformity with the finger in flexion. Any malrotarion or angurar
deformity requires correction for optimal functioning of the
hand. Thesedeformitiesare correcredwith closedreduction, and
if unstable,rhey need stabilization.

FOREABM
FRACTURES
Fractures of the wrist and forearm are very common fractures in
children, accounting for nearly half of ali fractures seen in the

skeletally immature. The most common mechanism of injury is a

fall on the outstretched hand. Eighty percent of forearm fracrures
involve the distal radius and ulna, I5%o involve the middle third,
and the rest are rare fractures of the proximal third of the radius
or ulnar shaft. The majority of forearm fractures are torus or
greenstick fractures. The torus fracture is an impacted fracture,
and there is minimal soft-tissueswelling or hemorrhage. They are
best treated in a short arm (below the elbow) casr and usually
heal within 3-4 wk. Wrist buckle fractures have also been successfully treated with a removable splint.
Diaphyseal fractures could be more difficult to treat because
the limits of acceptable reduction are much more stringent than
for distal radial fractures. A sienificant malunion of a forearm
diaphysealfracturecan lead to ipermanent loss of pronation and
supination, leading to functional difficulties. The physical examination focuses on soft-tissue injuries and ruling out any
neurovascular involvement. The anterooosterior and lateral
radiographs of the forearm and wrist confi]m rhe diagnosis. Displaced and angulated fractures require manipulative closed reduction under general anesthesia.They are immobilized in an above
elbow cast for at least 6 wk. Loss of reduction and unstable fractures require open reduction and internal fixation.

DISTAL
HUMERAT
FRACTURES
Fractures around the elbow receivemore attention becausemore
aggressivemanagement is neededto achieve a good result. Many
injuries are intra-articular, involve the physeal cartilage, and may
result in rare malunion or nonunion. As the distal humerus develops from a seriesof ossification centers, these ossification centers
can be mistaken for fractures by inexperiencedeyes.Careful radiographic evaluation is an essential part of diagnosing and
managing distal humeral injuries. Common fractures include
separation of the distal humeral epiphysis (transcondylar fracture), supracondylarfracturesof the distal humerus, and epiphyseal fractures of the lateral or medial condyle. The mechanism of
injury is a fall on an outstretched arm. The physical examinarion
includes noting the location and extent of sofr-rissue swelling,
ruling out any neurovascular injury, specifically anterior
interosseousnerve involvement or evidenceof comparrmenr svndrome. The transcondylar fracture in neonates should raise suspicion of child abuse. Anteroposterior and lateral radiographs of
the involved extremity are necessaryfor the diagnosis. If the fracture is not visible, but there is an altered relationship between the
humerus and the radius and ulna or the presenceof a posterior
fat pad sign, a transcondylar fracture or an occult fracture should
be suspected.Imaging studies such as CT, MRI, and ultrasonography may be required for further confirmation.
In general, distal humeral fractures need good restoration of
anatomic alignment. This is necessaryro prevenr deformity and
to allow for normal growth and development. Closed reduction
alone, or in association with percutaneous fixation, is the preferred method. Open reduction is necessary for fractures that
cannot be reduced by closed methods. Inadequate reductions may
lead to cubitus varus, cubitus valgus,and rare nonunion or elbow
instability.

Fracturesr 2839
Ghapter
682 r Common

PROXIMAT
HUMERUS
FRACTURES

FRACTURE
TODDTER

Fractures of the proximal humerus account ior <5"/" of fractures

in children. They usually result from a fall onto an outstretched
arm. The fracture pattern tends to vary with the age group. Children younger than 5 yr of age have an SH I injury, those 5-10 yr
of age have metaphvsealfractures,and children older than 1 1 yr
have SH II injury. Examination includes a thorough neurologic
evaluation, especiallyof the axillary nerve. The diagnosis is made
on anteroposterior radiographs of the shoulder. An axillary view
is obtained to rule out any dislocation. SH I injuries do not
require reduction as they have excellent remodeling capacity, and
simple immobilization in a sling for 2-3 wk is sufficient. The
proximal humerus contributes 80% of the growth to the
humerus. The metaphysealfracturesusually do not need reduction unlessthe angulation is >50 degrees.A closed reduction with
sling immobilization adequately treats this fracture. SH II fractures with <30 degreesof angulation and <50% displacementare
managed in a sling. Displaced fractures are treated with closed
reduction and further stabilizationif unstable.Occasionallnopen
reduction is required becauseof button-holing of the fracture
spike through the deltoid or interpositionof the tendon of biceps.

Toddler fractures occur in young ambulatory children. The age

range for this fracture is typically from around 1-4 yr. The injury
ofren occurs after a seemingly harmless twist or fall and is frequently unwitnessed. The children in this age group are usually
unable to articulate the mechanism of injury clearly or to describe
the area of injury well. The radiographs may show no fracture;
the diagnosis is made by physical examination. The classic

FRACTURES
CLAVICULAR
Neonatal fracturesoccur as a result of direct trauma during birth,
most often following a narrow peivis or shoulder dystocia. They
can be missed inirially and can appear with pseudoparalysis.
Childhood fractures are usually result of a fall on the affected
shoulder or direct trauma to the clavicle. The most common site
for fracture is the junction of the middle and lateral 3rd clavicle.
Tendernessover the claviclewill make the diagnosis.A thorough
neurovascularexamination is important to diagnoseany associated brachial plexus injury. An anteroposterior radiograph of the
clavicle demonstrates the fracture and may show overlap of the
fragments. Physealinjuries occur through the medial or lateral
growth plate and may be sometimesdifficult to differentiate from
dislocations of the acromioclavicularor sternoclavicularjoint.
Further imaging such as a CT scan may be necessaryto further
define the injury. The treatment of most clavicle fractures consistsof an application of a figure-of-eightclaviclestrap. This will
extend the shoulders and minimize rhe amount of overlao of the
fracture fragments. The physeal fractures are treated with simple
sling mobilization without any reduction attempt. Frequently,
anatomic alignment is not achieved, nor is it necessary.The fractures heal rapidly, usually in 3-6 wk. Usually a paipablemass of
callus may be visible in thin children. This remodels satisfactorlly in 6-12 mo. Complete restoration of shoulder motion and
function is uniformly achieved.

682.4o FRAcruBEs
oFLowrnExrRrrurrv

of the 3 vrews. A 3-phase technetium bone scan can be helpful in

excluding infections such as septic arthritis and osteomyelitis.The
fracture is treated with an above-knee cast for approximately
3 wk.

FRACTURES
SHAFT
TIBIAANDFIBULA
The tibia is the most commonly fractured bone of the lower limb
in children. This fracture generally results from a direct iniury.
Most tibial fractures are associatedwith a fibular fracture, and
the mean age of presentation is 8 yr. The child will have pain,
swelling, and deformity of the affected leg and will be unable to
bear weight. Distal neurovascular examination is important in
assessment.The anteroposterior and lateral radiographs should
include the knee and ankle. Closed reduction and immobilization
are the standard method of treatment. Most fractures heal well,
and children usually have excellent results. Open fractures need
to undergo irrigation and debridement multiple times. The fractures with more severe soft-tissue iniury are best treated with
external fixation. The fracture healing in open fracture takes
l o n g e r r h a n t h e c l o s e di n i u r i e s .

FRACTURES
SHAFT
FEMORAT
Fractures of the femur in children are common' All age groups,
from early childhood to adolescence,can be affected. The mechanism of injury varies from low-energy twisting type injuries to

obtained to rule out any associatedpelvic fracture. Treatment of

shaft fractures varies with the age group' as described in Table
682-2.

HIPFBACTUBE
Hip fractures in children account Ior <'1,''/"of all children's fractures. These injuries result from high-energy trauma and are frequently associated with injury to the chest, head, or abdomen.
Treatment of hip fractures in children entails a complication rate
of up to 60o/", an overall avascular necrosis rate of 507o, and a
malunion rate of up to 30%. The unique blood supply ro the
femoral head accounts for the hieh rate of avascular necrosis.
Fracturesare classifiedas transphyiealseparations,transcervical
fractures, cervicotrochanteric fractures, and intertrochanteric
fractures. The managementprinciple includes urgent anatomic
reduction (either open or closed),stable internal fixation (avoiding the physis if possible),and spica casting.

IRIATMINT
0PTI0NS

0-2 Yr

Spcacast
Tra(:tion
andspiia(ast
rod
lntramedullary
External
fixator
orplate
Sr:rew
*0pn
fractur

l-5 yr
X
X
XX

6-10yr
XX
XX
XXX

>11yr

X"

Knawle(lge
Afthapaedi(s:hrc
lP (ditor):Pdldtr
n Dormans
t0 theowefextremity.
f:Inumarelated
Modllird
formWells
p 93
Mosby,2005,
Philadeiphia,
it Afthapaedi(

2840r PART)UXl I BoneandJointDisorders

Fiilurc (rll2-7. The triplane fracrure is a transitional fracture: anreroposterior(A) andlateral (B/ radiographs.(From Dormans
JP:Pediatric Orthopedics:Introduction to Trduma Phlladelphia,Mosby, 2005, p 38.)

TBIPTANE
ANDTILLAUX
FRACTURES
These fracture patterns present at the end of the growth period
and are basedon relativesrrengrhof the bone-physisjunction and
asymmetric closure of the ribial physis. The triplane fracrures are
so named becausethe injury has coronal, sagittal,and transverse
components(F19.682-7\.The Tillaux fractureis an avulsionfracture of the anterolateralaspectof the distal tibial epiphysis.Radiographs and further imaging with CT and three-dimensional
reconstructlons are necessaryto analyze the fracture geometry.
The triplane fracture involves the articular surface and hence
anatomic reduction is necessary.The reduction is further stabilized with internal fixation. The Tillaux fracrure is treated by
closed reduction. Open reducrion is recommended if a residual
i n t r a - a r f i c u l a sr r e p o f fp e r s i s r s .

METATARSAL
FRACTURES
Metatarsal fractures are common in children. They usually result
from direct trauma to the dorsum of the foot. High-energy
trauma or multiple fractures of the metatarsal base are associated
with significant swelling. A high index for compartment syndrome of the foot must be maintained and compartment pres-

sures must be measured if indicated. Diagnosis is obtained by

anteroposterior, lateral, and oblique radiographs of the foot.
Most metatarsal fractures can be treated by closed methods in a
below-knee cast. Weight bearing is allowed as tolerated. Displaced fractures may require closed or open reduction with internal fixation. Percutaneous, smooth Kirschner wires generally
provide sufficient internal fixation for these injuries. If the compartment pressure is increased,complete releaseof all compartments in the foot is necessary.

TOEPHATANGEAL
FRACTURES
Fractures of the lessertoes are common and are usuallv secondarv
to direct blows. They commonly occur when the child is barel
foot. The toes are swollen, ecchymotic, and tender. There may be
a mild deformity. Diagnosis is made radiographically. Bleeding
suggeststhe possibility of an open fracture. The lessertoes usually
do not require closed reduction unless significantly displaced. If
necessary,reduction can usually be accomplished with longitudinal traction on the toe. Casting is not usually necessary."Buddy"
taping of the fractured toe to an adjacent stable toe usually provides satisfactory alignment and relief of symptoms. Crutches and
heel walking may be beneficial for several days until the softtissue swellins and the discomfort decrease.

Chapter683 r OsteomyelitisI 2841

682.5o OPERATIVE
TREATMENT

. Ourcorurs
Assrssmrrur
682.1

Four to 5o/o ol pedtatric fractures require surgery. The common

indications for operative treatment in children and adolescents
include (1) displaced physeal fractures, (2) displaced intra-articular fractures, (3) unstable fractures, (4) multiply injured child,
(5) open fractures, (6) failure to achieve adequate reduction in
older children, (7) failure to maintain an adequate reduction, and
(8) certain pathologic fractures.
The aim of operative intervention is to obtain anatomic alignment and relative stability. Rigid fixation is not necessaryas ir is
in adults for early mobilization. Further, the relatively stable construct can be supplemented with external immobilization. SH
type III and IV injuries require anatomic alignment, and if unstable, internal fixation is used (use of smooth Kirschner wires,
preferably avoiding the course across the growth plate). Multiple
closed reductions of an epiphyseal fracture are contraindicated
becausethey may cause permanent damage to the germinal cells
of the physis.

Empirical and subjective assessmentleads to erroneous conclusions and difficulty in comparison with outcome results from
other studies. The three scalesused to evaluate different modalities of treatment for musculoskeletal trauma are the Activities
Scalefor Kids, the Pediatric Functional Health Outcomes Instrument, and the Pediatric Outcome Data Collection Instruments.
The American Academy of Orthopaedic Surgeonsdeveloped the
Pediatric Functional Health Outcomes Instrument as an example
of health status measure.

SURGICAT
TECHNIOUES
It is important to take great care with soft tissues and skin. The
other indications for open reduction and internal fixation are
unstable fractures of the spine, ipsilateral fractures of the femur,
neurovascular injuries requiring repair, and, occasionally open
fractures of the femur and tibia. Closed reduction and minimally
invasive fixation are specifically used for supracondylar fractures
of the distal humerus, phalangeal fractures, and femoral neck
fractures. Failure to obtain anatomic alignment by closed means
is an indication for an open reduction.
The main indications for external fixation are summarized in
Table 582-3. The advantages of external fixation include rigid
immobilization of the fractures, accessto open wounds for continued management, and easierpatient mobilization for treatment
of other injuries and transportation for diagnostic and therapeutic procedures. The majority of complications with external
fixation are pin tract infections, chronic osteomyelitis, and
refracturesafter pin removal.

Bandyopandhyay S, Yen K: Non-accidental fractures in child maltreatment

syndrome.Clin Pediatr Emerg Med 2002;3:1'45-1'52.
BeatyJH, KasserJR (editors):Rochwood and Wilhins' Fracturesin Children,
5th ed. Philadelphia,JB Lippincott,2001.
Bohm ER, Bubbar V, Hing Kl et al: Above- and below-the-elbowplastercasts
for distal forearm fractures in children. J Bone Joint Surg 2006;88-A:1-8.
Cummings RJ: Paediatricfemoral fracture. Lancet 2005;355:1116-1'L1'7.
DavidsonJS,Brown DJ, BarnesSN, et al: Simpletreatmentfor torus fractures
of the distal radius./ Bone Joint Surg Br 2001';83:1'173-1'175.
Della-GiustinaK, Della-GiustinaDA: Emergencydepartmentevaluation and
treatment of pediatric orthopedic iniuries. Emerg Med Clin North Am
1,999;17:895-922.
Flynn JM, Kolze EA: Upper extremity injuries. In Dormans JP (editor): Pedi
atric Ortbopaedics: Core Knowledge in OrthopaedLs. Philadelphia, Mosby,
2005, pp 47-84.
Flynn JM, Nagda S: Upper extremity iniuries. In Dormans JP (editor\: The
Requisites in Pediatrics: Pediatric Orthopaedics and Sports Medicine'
Philadelphia,Mosby, 2005, pp 21'48.
GreenNE, Swiontkowski MF (editors):SkeletalTrauma in Children,3rd ed.,
vol. 3. Philadelphia,rJ0BSaunders,2001.
Horn DB, WellsL, TamaiJ: Lower extremity{ractures.In DormansJP (editor):
The Requisites in Pediatrics: Pediatric Orthopaedics and Sports Medicine.
Philadelphia,Mosby, 2005, pp 49-92.
Kocher MS, Waters PM, Micheli LJ: Upper extremity injuries in the pediatric
5.
athlete.Sporls Med 2000;30:11'7-1'3
Overly F, Steele DV: Common pediatric fractures and dislocations. C/lz
Pediat Emerg Med 20023:106-11'7.
Plint AC, Perry JJ, Correll R, et al: A randomized,controlled trial of removable splinting versuscasting for wrist buckle fractures in children. Pediatrics
2006:117:691.-697.
Salter RB, Harris \WR: Injuries involving the epiphysealplate. ,l Bone Joint
Surg Am 1953;45 :587-622.
SkaggsDL, Mirzayan R: The posterior fat pad sign in association with occult
fracture of the elbow in children. J Bone Joint Surg Am 1999;81':
1429-1433.
Thompson GH, Haber LL: Upper extremity fractures in the pediatric patients.
In FitzgeraldRH Jr, Kaufer H, Malkani A (editors):Orthopaedics'St. Louis,
MosbS 2002, pp 484494.
\?ells L, Millman JE: Trauma related to the lower extremity. In Dormans JP
(editor): Pediatric Orthopaedics: Core Knotttledge in Orthopaedics.
P h i t a d e l p h i aM, o s b y , 2 0 0 5 , p p 8 5 - 1 1 5 .
\Tright JG, uTangEEL, Owen JL, et al: Treatments for paediatric femoral fractures: A randomized trial. Lancet 2005:365:1'1'53-1162.

682.6o CoMpucATroNs
0FFnRcruRrs
rNCHTLDREN
The complications specific to children are malalignment and correction by natural growth, physeal arrest, overgrowth, and refracture caused by rapid fracture healing. The malalignment and late
angulation is a common problem with fractures of the proximal
tibial metaphysis. The physeal arrest can cause angular deformity
or shortening. The angular deformities are treated by hemiepiphysiodesis or osteotomy. The shortening is treated with contralateral leg epiphysiodesis closer to skeletal maturity or
Iengthening of the short limb. Refractures cause more deformity
and may necessitate open reduction. Other complications are
reflex sympathetic dystiophy, ligamentous instability, malunion,
nonunion, fat embolism, and neurovascular iniuries.

1
2
I
4

Grade
1landlllopen
fractures
Fractures
withsevere
dss0iiated
burns
Fra(tures
wrthsoft-tissue
lossrequir
ngfreeflaps
orskingrafts
Frartures
requiring
distractions
such
asthose
withsignificant
bone
loss

llnc:hlo

nolvir frrrrrrac

6 Fractures
inchildren
withasso(iated
head
inj|]ries
andspasticity
7, Fractures
assoriated
withvascular
0rnerve
repairs
orreconstruction

Bone infections in children are important becauseof their potential to causepermanent disability. The frequency of skeletal infection is greater in infants and toddlers than in older children' Early
recognition of osteomyelitis in young patients before extensive
infection develops and prompt institution of appropriate medical

2842r PARTXXXI r gsngandJointDisorders

and surgical therapy rninimize permanent damage. The risk is
greatestif the physis (the growth plate of bone) is damaged.
ETltlt0GY Bacteria are the most common pathogens in acure
skeletalinfections.In osteomye[tis,Stdphylococcusaureus rs the
most common infecting organisrn in all age groups, including
newborns. Group B streptococcusand gram-negative enreric
bacilli /Escberichia coli) are also prominent parhogens in
neonates;group A srreptococcusconstirutes<107" of all cases.
After 6 yr of age, most casesof osteomyelitisare caused by S.
aureus, streptococcus,or Pseudomonasaeruginosa. Cases of
Pseudomonasare related almost exclusivelvto Duncturewounds
of the foot, with direct inocularion ,,;fP. aeruginosd from the foam
padding of the shoe into bone or carrilaga,which develops as
osteochondritrs.Salmonella speciesand S. aureus are the two
most common causesof osteomyelitisin children wirh sickle cell
anemia. Ptrcttmococcus
may also causeosteomvelitisin children
with sickle cell anemia. Kingella kingae may be the second most
common cause of osteornyelitisin chrldren. K. kingae may be
sporadic or occur in clusters producing osteomyelirisor septic
arthritis.
Infecrion with atypical mycobacteria, S. aureus, or
Pseudomcsnas
can occur after penetratinginjuries. Fungal infections usually occur as part of mulrisystemdisseminateddisease;
Candida osteomyelitis sometimes complicates fungemia in
neonatesrvith or wrthout indwelling vascularcatheters.Primary
viral infection of bones is exceedinglyrare.
A microbial etiolog,vis confirmed in about 75"k of casesof
osteomyelitis.Prior antibiotic therapy and the inhibitory effect of
pus on microbial growth may exp[ain rhe low bacterialyield.
EPIDEMI0L0GY.
Osteomvelitis is common in young children;
a b o u t 3 0 % o c c u r b y 2 v r o f a g e a n d 5 0 % b v 5 y r o f a g e .B o n e
infectionsare more common in boys than girls, usually by a factor
of 2 : L The behaviorof boys may predisposeto rraumatrcevenrs.
Except for rhe increasedincidenceof skeletalinfecrion in patients
with sickle cell disease,rhere is no predilectionfor osteomyelitis
basedon race.
The majority of infectionsin previouslyhealthy children are of
hematogenousorigin. N{inor, closed trauma is a common preceding event in casesof osteomyeliris,occurring in about 30"h of
patients. Infecrion of bones can follclw penetraring injuries or
open fractures. Bone infection following orthopedic surgery is
uncommon. Lnpaired host defensesalso increasethe risk of skeletal infection. Other risk facors are nored in Table 683-1.

M0sT(0MM0N
CUNt$tA550CtAIt0N

MICROORGANISM

Frequent
microorganism
inanytypeof
osteomyelitis
Foreign
body-asociated
infection

Stophyloroccus
oureus
0rresrstant
t0
lsus(eptible
methicillin)
[0agulase
negatitle
staphylococci
or
Propionibooeriun
spp
fnterobotter
ioceoe,
Pseud
ononosoeruginwo,
tundidospp
Streptorocci
and/or
anaerobic
bacteria

innosocomial
[ommon
infections
Associated
withbites,
diabetic
footlesions,
and
decubitus
ukers
Sickle
celldisease

Solnonello
spp,5.oureus,or
strcptl(o(us
pneun0nl0e
HIVinfection
quintono
Bortonello
henseloe
orBortonello
Human
oranimal
bites
Posteurello
nultocido
orfikenello
corrodens
palrents
lmmunocompromised
Aspuqillus
spp,fundida
olbkons,or
Mytob
spp
Populations
inwhich
tuberculosis
isprevalent
Mytobocter
iumtubutuIosis
Populations
inwhi(hthese
pathogens
areendemir Brucello
spp,fuxiello
burnetri,
iungifoundin specific
ge0graphic
((occidi0d0my(0sis,
areas
blastomycosis,
histoplasmosis)
From
tewDgWaldvogel
FA:0sreomyeliris
lrnrer2004;364.369
379

BONE
Tibia
Femur
Humerus
Fibula
Radius
ulna
Vertebra
Foot
bones
Pelvic
bones
Hand
bones
[hest
bones
Head
bones
Based
onunoublshed
series
0f372
oatients
w

N0.

o/o

101
105
58
26
17
i0
9
33
30
)7
13
6

143
238
132
59
39
23
20
t5
68
61
29
14

PATH0GENESIS.
The unique anatomy and circulation of the ends
of long bones result in the predilection for localization of bloodborne bacreria. In the metaphysis, nutrient arteries branch into
nonanastomosingcapillaries under the physis, which make a
sharp loop before entering venous sinusoids draining into the
marrow. Blood flow in this area is sluggish and provides an ideal
environment for bacterial seedine.Once a bacterial focus is established,phagocytesmigrate to thi site and produce an inflammatory exudate (metaphysealabscess).The generation of proteolytic
enzymes,toxic oxygen radicals, and cytokines results in decreased
oxygen tension, decreasedpH, osteolysis,and tissue destruction.
As the ir-rflammatory exudate progresses, pressure lncreases
spread through the porous metaphyseal space via the haversian
systemand Volkmann canals into the subperiostealspace.Purulence beneath the periosteum may lift the periosteal membrane
of the bony surface, further impairing blood supply ro rhe cortex
and metaphysis.
In newborns and young infants, transphyseal blood vessels
connect the metaphysisand epiphysis,so it is common for pus
from the metaphysis to enter the yoint space. This extension
through the phvsis has the potential to result in abnormal growrh
and bone or joint deformity. During the latter part of the 1st year
of life, the physis forms, obliterating the transphyseal blood
vessels.Joint involvement once the physis forms may occur in
joints where the metaphysisis intra-articular (hip, ankle, shoulder, and elbow) and subperiostealpus ruptures into rhe joint
space.
In later childhood, the periosteum becomes more adherent,
favoring pus to decompress through the periosteum. Once the
growth plate closes in late adolescence, hematogenous
osteomyelitis more often begins in the diaphysis and can spread
to the enrire intramedullarv canal.
CLINICAL MANIFESTATI0NS.The signs and symproms of
osteomyelitis are highly dependent on the age of the patient. The
earliest signs and symptoms are often subtle.
Neonatesmay exhibit pseudoparalysis
or pain with movement
of the affected extremity. Half of neonatesdo not have fever and
may not appear ill. Older infants and children are more likely to
have fever, pain, and localizing signs such as edema, erythema,
and warmth. With involvement of the lower extremities. limo or
refusal to walk is seenin approximately half of parienrs.
Focal tendernessover a long bone can be an important finding.
Local swelling and rednesswith osteomyelitis may mean thar the
infection has spread our of the metaphysis into the subperiosteal
space, representing a secondary soft tissue inflammatory
response,
Long bones are principally involved in osteomyelitis (Table
683-2). The femur and tibia are equallv affected and together
constitute almost half of all cases.The bones of the upper extrem-

Ghapter683 r 0steomyelitisr 2843

ities account for one fourth of all cases.Flat bones are less commonly affected.
There is usually only a single site of bone or joint involvement.
Several bones are infected in <L0"/o of cases; the exception is
osteomyelitis in neonates, in whom two or more bones are
involved in almost half of the cases. Children with subacute
symptoms and focal finding in the metaphysial area (usually of
tibia) may have a Brodie abscess,with radiographic lucency and
surrounding reactive bone.
Patients with culture negative osteomyelitis may have a more
benign clinical appearance but respond well to empiric antistaphylococcal therapy.
DIAGN0SIS.A blood culture should be oerformed in all casesof
suspected osteomyelitis. Aspiration for Gram stain and culture
when the history and physical findings indicate a strong likelihood of osteomyelitis remains the definitive diagnostic technique
and provides the optimal specimen for culture to confirm the
diagnosis. For suspectedosteomyelitis, a steel needle is needed to
penetrate the cortex into the metaphysis. If pus is encountered in
the subperiosteal space, there is no need to go farther. Direct
inoculation of clinical soecimens into aerobic blood culture
bottles may improve the ricovery of Kingella kingae particularly
if held for 1 wk. Aspiration of bone pus provides the best specimen for bacteriologic culture of infection. K. kingae may need to
be identified by polymerase chain reaction.
There are no specific laboratory tests for osteomyelitis. Tests
such as white blood cell count and differential, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) are very sensitive for bone infections but are nonsoecific and not helpful in
distinguishingbetweenskeletalinfection and other inflammatory
processes.The leukocyte count and ESR may be normal during
the first few days of infection, and normal test results do not preclude the diagnosis of skeletal infection. Monitoring elevatedESR
and CRP may be of value in assessingresponseto therapy or identifying complications.
BadiographicEvaluation.Radiographic studies play a crucial
role in the evaluation of osteomyelitis. Conventional radiographs,
ultrasonography, CT, MRI, and radionuclide studies may all contribute to establishing the diagnosis. Plain radiographs are often
used for initial evaluation to exclude other causessuch as trauma
and foreign bodies. MRI has emerged as a very sensitiveand specific test and is widely used for diagnosis. The sequence of
radionuclide studies or MRI is often determined by age, site, and
clinical presentation.
PLAIN RADIOGRAPHS. Within 72hr oI onset of symptoms
of osteomyelitis, plain radiographs of the involved site using softtissue technique and compared to the opposite extremity, if necessary,can show displacementof the deep muscle planes from the
adjacent metaphysis caused by deep-tissue edema. Lytic bone
changesare not visible on radiographs until 30-50% of the bony
matrix is destroyed. Tubular long bones do not show lytic
changes for 7-1,4 days after onset of infection. Flat and irregular
bones can take longer.
Tomography
and MagneticBesonancelmaging.CT can
Gomputed
demonstrate osseousand soft-tissueabnormalities and is ideal for
detecting gas in soft tissues.MRI is the best radiographic imaging
technique for the identification of abscessesand for differentiation between bone and soft-tissueinfection. MRI provides precise
anatomic detail of subperiosteal pus and accumulation of purulent debris in the bone marrow and metaphysesfor possible surgical intervention. In acute osteomyelitis, purulent debris and
edema appear dark with decreased signal intensity on T1weighted images, with fat appearing bright (Fig. 683-1). The
opposite is seen in T2-weighted images. The signal from fat can
be diminished with fat suppressiontechniquesto enhance visualization. Gadolinium administration can also enhance MRI. Cellulitis and sinus tracts appear as areas of high signal intensity on
T2-weighted images.

MRI appears to have comparable positive predictive value to

radionuclide imaging in acute osteomyelitis. MRI is particularly
useful in the evaluation of vertebral osteomyelitis and diskitis
owing to the clear delineation between the vertebral body and

suspectedbone infections especiallyif multiple foci are suspected.

Technetium-99 methylene diphosphonate (ee-Tc1, which accumulates in areasof increasedbone turnover, is the preferred agent
of choice for radionuclide bone imaging (three-phasebone scan).
Osteomyelitis causes increased vascularity, inflammation, and
increased osteoblastic activity, resulting in an increased concenee'Tc. Any areas of increased blood flow or inflamtration of
ee-Tc in the first phase and
mation can cause increaseduptake of
ee'Tc
secondphases,but osteomyelitis causesincreaseduptake^of
ee-Tc
has
in the third phase (4-6 hr). Three-phase imaging with
excellent sensitivity (84-1.00%\ and specificity (70-95%) in
hematogenous osteomyelitis and can detect osteomyelitis within
24-48 hr after onset of symptoms. The sensitivity in neonates is
much lower owing to poor bone mineralization. Advantages
include infrequent need for sedation, lower cost, ability to image
entire skeleton for detection of multiple foci, and ability to scan

osteomyelitis includes trauma, both accidental and nonaccidental. Children with leukemia commonly have bone pain or joint
pain as an early symptom. Neuroblastoma with bone involvement may be mistaken for osteomyelitis. Primary bone tumors
need to be considered,but fever and other signs of illness are generally absent except in Ewing sarcoma. Chronic recurrent multifocal osteomyelitis (CRMO) and synovitis, acne, pustulosis,
hyperostosis, and osteitis syndrome are rare noninfectious conditions in children characterized by recurrent osteoarticular
inflammation and different skin conditions, palmoplantar pustu-

The diagnosis is made by having more than two lesionswith osteolysis and encircling sclerosis,duration of >6 mo, and characteristic histology (not always needed).

Optimal treatment of skeletal infections requires colfforts of pediatricians, orthopedic surgeons, and

based on knowledge of likely bacterial pathogens at various ages,

the results of the Gram stain of aspirated material, and additional
considerations.In neonates,an antistaphylococcalpenicillin, such
as nafcillin or oxacillin (150-200 mglkglza hr divided q6h IV),

of the cephalosporin, but aminoglycoside antibiotics have

reduced antibacterial activity in sites with decreased oxygen
tension and low pH, conditions that are present in tissue infections. If the neonite is a small premature infant or has a central
vascular catheter, the possibility of nosocomial bacteria
(Pseudomona.sor coagulase-negative staphylococci) or fungi
(Candida) should be considered. In older infants and children,
the principal pathogens are S. aureus and streptococcus. Cefazolin lfOO-tSAmglkg/zahr divided q8h IV) or nafcillin (150200mglkgl2a hr divided q6h) provides coverage against these
caose.lnd can be used. If methicillin-resistant Staphylococcusis
suspected, vancomycin is substituted for nafcillin. Cefotaxime

2844I p1j1 1;Xl I BoneandJointDisorders

Figure (rll.3-1.Pelvic osteomyelitisof the left iliac bone in a 12 yr old girl

with pain in the left hip region for 1-2 wk. A, Frontal radiograph of the
pelvis shows mild demineralizationof the acetabularportion of the iliac
bone adjacentto the triradiatecartilage.There is very subtleperiostealreactron (arrow) along the margin of the sciaticnotch. B, Technetium-99mbone
scanshows increaseduptake in the left iliac bone and mild increaseduptake
in rhe femoral head. C Coronal MRI shows decreasedsignal from the
marrow of the left iliac bone compared with the bright signal from the
normal fatty marrow on the right. The femoral head is normal, and there
is no joint effusion. Needle aspiration of the iliac bone yielded Staphylococcusaureus;the patient respondedwell to antimicrobial therapy.(From
Markowitz RI: Diagnosticimaging. In JensonHB, Baltimore RS [editors]:
Pediatric lnfectious Diseases:Principles and Practice. Norwalk, Cl Applet o n & L a n g e ,1 9 9 5 . )

(200 mglkgl24 hr divided qSh IV) or cefrriaxone may be used in

patients not vaccinared against Haemophilus influenzae type b.
Special situations dictate deviations from the usual empirical
antibiotic selection. In patients with sickle cell disease with
osteomyelitis, gtr--n.gatiue enteric bacreria (Salmonella) are

to penetrating injuries or compound fracrures. Clindamycin and

vancomycin e0m{kgl24
hr divided q6h IV) are alternarives
when treating methicillin-resistant S. aureus infections. For
immunocompromised patienrs, combination therapy is usually
initiated, such as with vancomycin and ceftazidime, or wirh
piperacillin-clavulanate and an aminoglycoside. K. kingae usually
responds to cefotaxime.
When the pathogen is identified, appropriate adjustments in
antibiotics are made, if necessary.If a pathogen is not identified
and a patient's condition is improving, therapy is continued with
the initially selectedantibiotic. If a pathogen is not identified and
a patient'scondition is not improving, re-aspirarionor biopsy and
the possibilityof a noninfectiouscondition should be considered.
Duration of antibiotic therapy is individualizeddependingon
the organism isolated and clinical course. For infections caused
by S. aureus or gram-negative bacillary infections, the minimal
duration of antibiotics is 28 days, provided that (1) the patient
shows prompt resolution of signs and symptoms (within 5-7
days) and (2) the ESR has normalized; a rotal of 4-6 wk of

therapy may be required. For group A streptococcus, S. pneumoniae, or H. influenzae type b, antibiotics are given for a
minimum of 10-1,4 days, using the same criteria. A total of 7
postoperative days of treatment is adequate lor Pseudomonas
osteochondritis when thorough curettage of infected tissue has
been performed. Immunocompromised patients generally require
prolonged courses of therapy, as do patients with mycobacterial
or fungal infection.
Changing antibiotics from the intravenous route to oral administration when a patient's condition has stabilized, generally after
1 wk of intravenous therapy, may be considered. For the oral
antibiotic regimen with B-lactam drugs for staphylococcal or
streptococcal infection, a dose two to three times that used for
other infections is prescribed. The adequacy of the dose may be
assessedby peak serum bactericidal titers or Schlichter titers,
45-60 min after a dose of suspension or 60-90 min after a
capsule or tablet. A serum bactericidal titer of 1 : 8 or more is
considereddesirable.The oral regimen decreasesthe risk of nosocomial infections related to prolonged inrravenous therapS is
more comfortable for patients, and permits treatment outside the
hospital if adherence1o treatment can be ensured. Outpatient
intravenous antibiotic therapy via a central venous catheter can
be used for the completion of therapy at home, as an alternative.
CRMO requires treatment of any primary disorder. Treatment
of CRMO also includes prednisone; if steroids are unsuccessful,
infliximab has been succissful in a few patients.
Surgical Therapy. Surgical management of skeletal infections
has not been subjected to randomized, prospective study comparing surgical procedures. \(hen frank pus is obtained from
subperiosteal or metaphyseal aspiration, a surgical drainage
procedure is usually indicated. Surgical intervention is also often

Chapter 684 r Suppurative Arthritis (Septic Arthiltisl I 2845

indicated after a penetrating injury and when a retained foreign

body is possible. Surgical drainage is mandatory for osteomyelitis
of the femoral head with hip yoint involvement.
Treatment of chronic osteomyelitis consistsof surgical removal
of sinus tracts and sequestrum, if present. Antibiotic therapy is
continued for several months or longer until clinical and radiographic findings suggestthat healing has occurred.
PhysicalTherapy.The major role of physical medicine is a preventive one. If a child is allowed to lie in bed with an extremity
in flexion, limitation of extension may develop within a few days.
The affected extremity should be kept in extension with sandbags, splints, or, if necessary,casts. Casts are also indicated when
there is a potential for pathologic fracture. After 2-3 days, when
pain is easing, passive range of motion exercisesare started and
continued until the child resumes normal activity. In neglected
cases with flexion contractures, prolonged physical therapy is
required.
'When
pus is drained and appropriate antibiotic
PROGN0SIS.
therapy is given, the improvement in signs and symptoms is rapid.
Failure to improve or worsening by 72hr requires review of the
appropriateness of the antibiotic therap5 the need for surgical
intervention, or the correctness of the diagnosis. Acute-phase
reactants may be useful as monitors. The serum CRP typically
normalizes within 7 days after start of treatment, whereas the
ESR typically rises for 5-7 days, then falls slowly, dropping
sharply after t0-1.4 days. Failure of either of these acute-phase
reactants to follow the usual course should raise concerns about
the adequacy of therapy. Recurrence of diseaseand development
of chronic infection after treatment occur in <L0%" of patients.
Becausechildren are in a dynamic state of growth, sequelaeof
skeletal infections may not become apparent for months or years;
therefore, long-term follow-up is necessarywith close attention
to range of motion of joints and bone length. Although firm data
about the impact of delayed treatment on outcome are not available, it appears that initiation of medical and surgical therapy
within 1 wk of onset of symptoms provides a better prognosis
than delayed treatment.

leukodicingenes
BocchiniC, Hulten KG, Mason Jr. EO, et al: Panten-valentine
are associatedwith enhancedinflammatory responseand local diseasein
acute hematogenousStaphylococcusaureus osteomyelitis in chtldren. Pediatrics 2006 t'1,1,7
:4334 40.
Connolly LP, Connolly SA, Druback LA, et al: Acute hematogenous
osteomyelitis of children: Assessmentof skeletal scintigraphy-based diagnosis in the era of MRI. J Nucl Med 2002;43:131.0-131.6.
Deutschmann A, Mache CJ, Bodo K, et al: Successfultreatment of chronic
recurrent multifocal osteomyelitis with tumor necrosis factor-d blockage.
Pediatrics 20O5 ;116 :1231-1233.
FernandezM, Carrol CL, Baker CJ: Discitisand vertebralosteomyelitisin children: An 18-year review. Pedidtrics 2000;1,05 :1299-1304.
Floyed RL, Steele RrW: Culture-negative osteomyelitis. Pedia* Infect Dk J
200322:731-735.
Gomez M, Maraqa N, Alvarez A, et al: Complications of outpatient parenteral
antibiotic therapy in childhood. Pediatr Infect Dis J 2001,;20:541-543.
Gonzales BE, Teruya J, Mahoney Jr. DH, et al: Venous thrombosis associated
with staphylococcal osteomyelitis in children. Pediatrics 2006;117:
r 5 75 - 1 6 7 9 .
Huber AM, Lam Pl Duffy CM, et al: Chronic recurrent multifocal
osteomyelitis: Clinical outcomes after more than five years of follow-up. /
Pediatr 2002:14l: 198-203.
Ibia EO, Imoisili M, Pikis A: Group A l3-hemolytic streptococcal osteomyelitis
in children. Pediatrics2003;ll2:e22-e26.
Jurik AG: Chronic recurrent multifocal osteomyelitis. Semin Musculoskelet
Radi oI 2004 ;8:243-2 53.
Kiang KM, OgunmodedeR Juni BA, et al: Outbreak of osteomyelitis/septic
arthritis caused by Kingella kingae among child care center attendees.Pedi
atr ics 200 5;7 16 :e206--e2L3.
Lew DP, Waldvogel FA: Osteomyelitis. Lancet 2004;364:369-379.

Maraqa NF, Gomez MM, Rathore MH: Outpatient parenteral antimicrobial

therapy in osteoarticular infections in children. J Pediatr Ortbop
2002;22:506-510.
Martinez-Aguilar G, Hammerman \7A, Mason EO Jr, Kaplan SL: Clindamycin
treatment of invasive infections caused by community-acquired, methicillinresistant and methicillin-susceptibleS. aureus in children. Pediatr lnfect Dis
J 2003;22:593-598.
Nelson JD: Bugs, drugs and bones: A pediatric infectious diseasespecialist
reflects on management of musculoskeletal infections. J Pediatr Orthop
1999:19:741'-142.
Saigal G, AzouzEM, Abdenour G: Imaging of osteomyelitis with special referenceto children. Semin MusculosheletRadiol 2004;8:255-265.
Shih HN, Shih LY, \fong YC: Diagnosis and treatment of subacute
osteomyelitis.J Trauma 2005;58:83-87.
Verdier I, Gayet-Ageron A, Ploton C, et al: Contribution of a broad range
polymerase chain reaction to the diagnosis of osteoarticular infections
caused by Kingella kingae. Pediatr Infect Dis J 2005;24:692-695.
Yagupsky P: K. kingae infections of the skeletal system in children: Diagnosis
and therapy. Expert Reu Anti Infect Ther 2004;2:787-794.
Yagupsky P, Erlich ! Ariela S, et al: Outbreak of Kingella kingae skeletal
system infections in children in daycare' Pediatr Infect Dis J
2006:25:526-532'

Suppurative infections of joints in infants and children have the

poiential to cause permanent disability. The frequency of suppuiative arthritis is increased in infants and toddlers more than in
older children. Early recognition of suppurative arthritis (also
called septic arthritis) in young patients before extensive infection develops and prompt institution of appropriate medical and
surgical therapy minimize further damage to the synovium' adjacent cartilage, and bone.
ETl0t0GY. The microbial spectrum is diverse in suppurative
arthritis, bv Staphylococcus aureus infection is most common.
Haemophilus inflwenzaetype b accounted for more than half of
all casesof bacterial arthritis in infants before the introduction

cus is a common causeof septic arthritis and tenosynovitis usually

of small ioints or as a monoarticular infection of a large joint
(knee).
Fungal infections usually occur as part of multisystem disseminateddisease; Candida arthritis may complicate systemic infection in neonates with or without indwelling vascular catheters.

and not typically suppurative.

Suppurative arthritis is more common in young
f alfcases occur by 2yr of age and three fourths

2846r PARTXXXIr BoneandJointDisorders

of all casesoccur by 5 yr of age.Adolescentsand neonatesare at
risk of gonococcal septic arrhriris.
The malority of infectionsin otherwisehealthy children are of
hematogenousorigin. Infection of joints can follow penerraring
injuries or procedures such as trauma, arthroscopy, prosthetic
joint surgern inrra-articular steroid injecrion, and orthopedic
surgery, although this is uncommon. Immunocompromised
patients and those with rheumarologicjoint diseaseare also ar
increasedrisk of joint infection.
. Suppurativearthritis primarily occurs as a result
us seedingof the synovialspace.Lessoften, organoint spaceby direct inoculation or extensionfrom
a contiguous focus. The synovial membrane has a rich vascular

cytes also contribute to cartilage and synovium destruction.

proteolytic enzymesand mechanicalfactors.

signsand symptoms of suppuraof the parient. Early signs and
ularly in neonates.Suppurative
infants is often associatedwith
adjacentosteomyelitisdue to transphysealspreadof infection (see
C h a p t e r 6 8 3) .
Older infants and children may have feverand pain, with localizing signssuch as swellir-rg,
eryrhema,and warmth of rhe affected
yoint. \fith involvemenrof joints of rhe pelvis and lower exrremities, limp or refusal to walk is often seen.

Joints of the lower extremity consriture7 5"/, of all casesof suppurative arrhritis (Table 684-1). The elbow, wrisr, and shouldir

JOINT

N0.

o/o

Knee
Hip
Ebow
Ankle
Shoulder
Wrist
Sacroiliar
Interphalangeal
Metatarsal
Acromiodavicular
sternoclavicular
Metacarpal

309
173
109
IM
37
34

396
22)
t40
133
41
44
06
05
04
01
01
01

Eased
0nunpublished
serles
joints
0f725patentswirh78'linfe(ted

joints are involved in about 257" of cases,and small joints are

uncommonly infected. Suppurative infections of the hip, shouider, elbow, and ankle in older infants and children may be associated with an adjacent osteomyelitis of the proximal femur,
proximal humerus, proximal radius, and distal tibia becausethe
metaphysis extends intra-articularly.
DIAGN0SIS.A blood culture should be Derformedin all casesof
suspectedseptic arthritis. Aspirarion of the joint fluid for Gram
stain and culture when the history and physical findings indicate
suppurative arthritis remains the definitive diagnostic technique
and provides the optimal specimen for culture to confirm the
diagnosis.Most large joint spacesare easy ro aspirate, but the
hip can pose technical problems; ultrasound guidance facilitates
aspiration. If no fluid is obtained, contrast material is injected
and a radiograph is obtained to ensure that the needle tip is in
the joint cavity. Aspiration of joint pus provides the best specimen for bacteriologic culture of infection. If gonococcus rs suspected, cervical, inal, and throat culrureJ should also be
obtained. In addition ro prompr inoculation onto solid media,
inoculation of the specimen in blood culture bottles may increase
recovery of K. kingae.
Synovial fluid analysis for cell count, differential, protein, and
glucose has limited usefulness because noninfectious inflammatory diseases,such as rheumatic fever and rheumatoid arthritis,
can also causeexuberantreactionwith increasedcellsand protein
and decreasedglucose. Synovial fluid characteristicsof suppurative arthritis can suggesrinfection but are not sufficiently specific
to exclude infection.
There are no specific laboratory tests for suppurative arrhritis.
Tests such as white blood cell count and differential, erythrocyte
sedimentation rate (ESR), and C-reactive protein (CRP) are very
sensitive for joint infections but are nonspecific and may not be
helpful in distinguishing between infection and other inflammatory processes.The leukocyte count and ESR may be normal
during rhe first few days of infection, and normal test results do
not preclude the diagnosis of suppurative arthritis. Monitoring
elevatedESR and CRP may be of value in assessing
responsero
therapy or identifying complications.
RadiographicEvaluation.Radiographic studies play a crucial
role in the evaluationof suppurativearthriris. Conventionalradiographs, ultrasonography, CT, MRI, and radionuclide studies
may all contribute to establishingrhe diagnosis.
PI-AIN RADIOGI{APHS. Plain films of suppurative arrhritis
may show widening of the joint capsule, soft-tissue edema,
and obliteration of normal fat lines. Plain films of the hio can
show medial displacemenrof the obturator muscleinto rhe pelvis
(the obturator sign), lateral displacemenror obliteration of rhe
far lines, and elevation of the Shenton line with a widened
:l:*",

rissueand subperiostealregions.Ultrasonographyis highly sensitive in the detection of joint effusion, particularly for the hip
joint, where plain radiographsmay be normal in >50% of casei
of suppurative arrhritis of the hip. Ultrasonography may serve as
a n a i d i n p e r f o r m i n gh i p a s p i r a t i o n .
COMPT]I'EI) TOMOGRAPHY AND MAGNET'IC RESONANCE IMAGINC;. Both CT and MRI may be useful in confirming the presence of joint fluid in parients with suspected
osteoarthritis infections. MRI may be useful in excluding adjacent osteomyelicis.
ln suppurativearrhriris,three-phaseimaging with technetium99 methylene diphosphonate shows symmetric uprake on both
sides of the joint, limited to the bony srructures adjacent ro the
joint. Radionuclide imaging is also useful for evaluation of the
sacrorlraclolnt.

Arthritis(SepticArthritisl . n4l
Ghapter684 r Suppurative
the patient. For the hip, toxic synovitis, Legg-Calv6-Perthes
disease, slipped capital femoral epiphysis, psoas abscess, and
proximal femoral, pelvic, or vertebral osteomyelitis as well as
diskitis should be considered. For the knee, distal femoral or
proximal tibial osteomyelitis, pauciarticular rheumatoid arthritis,
and referred pain from the hip should be considered. Other conditions such is trauma, cellulitis, pyomyositis, sickle cell disease,
hemophilia, and Henoch-Schonlein purpura can mimic purulent
'When
arthritis.
severaljoints are involved, serum sickness,collagen vascular disease, rheumatic fever, and Henoch-Schonlein
purpura should be considered. Reactive arthritis following a
variety of bacterial (gastrointestinal or genital) and parasitic
infections, streptococcal pharyngitis, or viral heparitis can resemble acute suppurative arthritis (see Chapter 156).
TREATMENT.
Optimal treatment of suppurative arthritis requires
cooperation of pediatricians, orthopedic surgeons, and radiologists to benefit the patient.
Antibiotic Therapy. The initial empirical antibiotic therapy is
based on knowledge of likely bacterial pathogens at various ages,
the results of the Gram stain of aspirated material, and additional
considerations.In neonates,an antistaphylococcalpenicillin, such
as nafcillin or oxacillin (150-200 mglkg/24 hr divided q6h IV),
and a broad-spectrum cephalosporin, such as cefotaxime
(200 mg/kglz4 hr divided q8h IV), provide coverage for the S.
aureus, group B streptococcus, and gram-negative bacilli. If the
neonate is a small premature infant or has a central vascular
catheter, the possibility of nosocomial bacteria (Pseudomonas
aeruginosa or coagulase-negative staphylococci) or fungi
(Candidd should be considered.
In children with suppurative arthritis, empirical therapy to
cover for S. aureus, streptococci, and K. kingae wovld include
cefazolin (100-150 mglkel24fu divided q8h) or nafcillin
(150-200 mg/ks/Z4 hr divided q5h).
Clindamycin (40 mgikg divided q6h) and vancomycin
60mglkglza hr divided q6h IV) are alternatives when treating
methicillin-resistant S. aureus infections. For immunocompromised patients, combination therapy is usually initiated, such as
with vancomycin and ceftazidime or with extended-spectrum
penicillins and p-lactamase inhibitors with an aminoglycoside.
Adjunct therapy with dexamethasone for 4 days with antibiotic
therapy appears to benefit children with septic arthritis.
When the pathogen is identified, appropriate changesin antibiotics are made, if necessary.If a pathogen is not identified and a
patient's condition is improving, therapy is continued with the
antibiotic selectedinitially. If a pathogen is not identified and a
patient's condition is not improving, re-aspiration or the possibility of a noninfectious condition should be considered.
Duration of antibiotic therapy is individualized depending on
the organism isolated and the clinical course. Ten to 14 days is
usually adequate for streptococci, pneumococcus,and K. kingae;
longer therapy maybe needed for S. aureus and other gramnegative infections. Normalization of ESR and CRP in addition

to a normal examinarion supports discontinuing antibiotic

of the hip is considered a surgical
nerability of the blood supply to the
other than the hip, daily aspirations
of synovial fluid may be required. Generally one or two subsequent aspirations suf6ce. If fluid continues to accumulate after
4-S days, arthrotomy is needed.At the time of surgery, the joint
is flushed with sterile saline solution. Antibiotics are not instilled
because they are irritating to synovial tissue, and adequate
amounts of antibiotic are achieved in joint fluid with systemic
administration.

reactants may be useful as monitors. Failure of either of these

acute-phasereactants to follow the usual course should raise concerns ibout the adequacy of therapy. Recurrence of diseaseand
development of chronic infection after treatment occur rn <tloh
of patients.
Becausechildren are rn a dynamic state of growth' sequelaeof
skeletal infections may not become apparent for months or years;

than delayed treatment.

BonhefferJ, HaeberleB, SchaadUB, HeiningerU: Diagnosisof hematogenous

osteomyelitis and septic arthritis: 20 years experienceat the University Children'sHospital Basel.Sa;rssMed Wkly 2001;131:575-581.
Centers for Disease Control and Prevention: Osteomyelitis/septic arthritis
caused by Kingella kingae among day care attendees-Minnesota. MMWR
2003;53:241-243.
Nelson JD: Bugs, drugs and bones: A pediarric infectious diseasespecialist
reflects on management of musculoskeletal infecdons. J Pediatr Orthop
199919:141-142
Odio CM, Ramirez! Arias G, et al: Double blind, randomized,placebo-controlled study of dexamethasonetherapy for hematogenousseptic arthritis in
children. Pediatr Infect Dis J 2003;22:883-888.
Ross JJ, Hu LT: Septic arthritis of the pubic symphysis. Medicine 2003i82:
340-345.
Schirtliff ME, Mader JT: Acute septic arthritis. Clin Microbiol Reu 2002;
L5:527-544.
'$ilang
CL, \WangSM, Yang YJ, et al: Septic arthritis in children: Relationship
of iausative pathogens,complications,and outcome.J Microbiol Immunol
lnfect 2003l.36:4146.

2848

PART XXXl w Bone and Joint Disorders

Section 2

- Sports Medicine

on
Healthy P ~ p l 2010
e
ObjMvtg mne2
physical
basis for
sddegrms. Physical
ha&favor& k on hyperGeneraps

acriuisy on a regular
activity
renbl'in*abesiry, and swum lipid kveb in pmb.b add&,phptcal mi&y is a d r e d wirh lower ram of & B S R S ~ ~ ~
erate to rigo~ous

a11

d~sease,type 2 dlabetes mellitus, osteoporosis, and colon and

breast cancer.
Phydcbs W d garnote physical &vity to dwk patients
and make adj'ustmeqts,in the type d physical activity dqxmdjrtg
oa && health statos.~Extsscffort ismeded to rty to malwe phys.

ical a & b patr.of rhc lifayk for,tbasewith lower ratesof p h p

id activity and sports panic
on, including chiIQen with
sgecid ,health care heeds and we fiom lower sociouc~amic

r@

activity, drug use, suicide, and violence. The purposes of the PSE
include detecting medical conditions that delay or disqualify athletic participation owing to a risk of injury or death, detecting
previously undiagnosed medical conditions, detecting medical
conditions that need further evaluation or rehabilitation before
participation, providing guidance for sports participation for
patients with health conditions, and meeting legal and insurance
obligations. If possible, the PSE should be combined with the
comprehensive annual health visit with emphasis on preventive
health care (see Chapters 5 and 12).
State requirements for how often a youth needs a PSE differ,
ranging from annually to entry to a new school level (junior high,
senior high, college). At a minimum, a focused, annual interim
evaluation should be done on an otherwise healthy young athlete.
The PSE is optimally performed 3-6 wk before the start of
practice.

NlST@I
The essential componenrs
of the PSE are the history and focused medical and muscu-

loskeletal screening examinations. Identified problems require

more investigation (Tables 685-1 and 685-2). In the absence of
groups. Coincident wlth promoting sports partlclpation and
symptoms, no screening laboratory tests are required.
physical activity, phys~c~ans
have the responsibll~tyof prov~dlng
Seventy-five percent of significant findings are identified by the
medical clearance for partlclpatlon in phys~calactlvlty and sports
history; a standardized questionnaire given to the parent and
and for d~agnosisand rehab~litat~on
of Injuries.
athlete is important because the young athlete may not know or
Approx~mately30 mill~onchildren and adolescents participate
may forget important aspects of his or her history. The quesIn organ~zedsports In the United States. Approx~mately3 mlll~on tionnaire should include questions about previous medical, surInjuries occur annually ~f Injury is defined as tlme lost from the
gical, cardiac, pulmonary, neurologic, dermatologic, visual,
spaa, D e d in
~ sports are mre, wirhl the majaity of normaw
psychologic, musculoskeletal, and menstrual problems, as well as
matic $ea.&s umed by cardiac &eases (se&ptw 436).
about heat illness, medications, allergies, immunizations, and
Owed, injury rate$ and injmy severity in s p a s hmasc
diet. The most common identified problems are unrehabilitated
agz and p u b d &evEt@rmt, relSKCL1 to the water speed,
injuries. An investigation of previous injuries including diagnosSB&.
mcl inrensity of cwnpritim.
tic tests, treatment, and present functional status is indicated.
Rem&ztng mechanisms of injury and miforcing rules &at
Sudden death during sports may result from undetected cardiac
c
e
d
w tbe btihood of &at mechanism of injwy, iindudirn~f disease such as hypertrophic or other cardiomyopathies, anompenalizingdangaws play, 'havereduced ca-odhic
WW ma. alous coronary vessels, or a ruptured aorta in Marfan syndrome
Injury t a m have
bwn redud bp x a e mvironmcnd (see Chapter 700). In many cases, the underlying heart disease is
b i d s , such as aamp~1'iesin
byrios and s r a S i lvs
~ ~ not suspected, and death is the first sign of heart disease (see
btdaway) barn h softball, andrmodifpmg heat injury uytmr
Chapter 436). Chest radiographs, electrocardiograms (ECGs),
hlsocetr. t m m m t s by addhg wirer bE&
and teducing the
and echocardiograms (ECHOs) are not recommended as routine
playing time. Wearing equipem such
moutb gu&s ,can screening tests. If there is a suspicion of heart disease, such as a
'kqdw dental ioiuries, A ctiamon mason forreinjury is lack of history of syncope, presyncope, palpitations, excessive dyspnea
&Kidon of old iajwies; apgxopriate klub'itioo rcdu~e~ with exercise, or a family history of a condition such as hyperInjury rates. Preseason tralnlng for hlgh school athletes, wlth an
trophic cardiomyopathy or prolonged Q T or Marfan syndrome,
emphasis on speed, aglllty, jump training, and flexib~l~ty,
is associated with lower Injury rates In soccer and fewer serlous knee
injurles In female athletes. Tradltlonal stretching maneuvers or
masswp may riot aduce the ddc (ofinjury or rnwcfe menew, bur
d i e taping, is Llpfut pastimlarly ro p m a t raiajurp of the

@le.

'One Wng far imp2emmtbg some of these prevention

~stmtslgiesand b r d
m usm&bfi$atrd i n f d and medical
pr~bli+ that c d d a k partkipation in spcm is the p-rdripaaion sports examinariofi IFSE),
PREPARTlClPATlON SPORTS EXAMINATION
The PSE is performed with a directed history and a directed physical examination, including a screening musculoskeletal examination. It identifies possible problems in 1-8% of athletes and
excludes 4%from participation. The PSE is not a substitute for
the recommended comprehensive annual evaluation, which looks
at behaviors that are potentially harmful to teens, such as sexual

I'

COMPONENT OF THE PHYSICAL

EXAMINAITON

V~talsigns
Height and weight
Vision and pup11rize
Lymph node
Cardiac (performed standing and supine)
Pulmonary
Abdomen
Sktn
_.
.itourinary
Musculoskeletal

CONDITION TO BE DETECTED
Hypertension, cardiac disease, bradyitachycardia
Obesity,eating disorders
Legal blindness,absent eye,anisocoria,amblyopia
Infectlous d~seares,rnallgnancy
Heart murmur, prior surgery,dysihythmia
Recurrent and exercise-induced bronchospasm,chronic
lung d~sease
Organomegaly,abdominal mass
tontag~ousdiseases (impetigo, herpes,staphylococcal,
streptococcal)
Vancocele, undescended testes, tumor, hernia
Acute and chronic injuries,physical anomal~es(scolios~s)

of Iniuriesr 2849
andPrevention
685I Epidemiology
Chapter

EONDITION
(ervical
(instabi
ity0fthej0int
Atlantoaxjal
instability
between
vertebrae
1and2)
participation
A|hle:r.
rceds
evaluati0n
t0assess
riskofspinal
fxpllnattln:
cordinjury
during
sports
disorder
Bleedrng
needs
Explanation
Athlete
evaluation
Cardiovas(ular
disease
(arditis
(inflammaion
oftheheart)
insudden
fxplonotian
[arditis
mayresult
death
withexe(i0n
(high
pressure)
Hypertenson
blood

PARTICIPATT
MAY
yes
Qualified
yes
Qua|tfred

NO
yes
Qualified

(hypertenslon
caused
bya previously
hypertension
need
evaluation
identifred
disease)
orsevere
essentia
(structural
present
heart
d sease
heart
atbirth)
[0rgenital
defeds

yes
Quaiifred

severe
diseasefor
common
cardiac
esions
moderate,and
(irregular
heart
rhythm)
Dysrhithmia

yes
Qualified

Al l]the6
mayparti(ipate
need
evaluation
ft]lly.
Heart
murmur

yes
Qualrfied

pr0lapsel
(erebral
palsy
needs
: Arhlete
evaluation
fxplonotion
mellitus
Diabetes
glucose
ntherap,
hydration,
andinsul
Al1
spons
canbeplayed
withpf0per
attention
t0diet,
bl00d
concentratron,
fxplonmion
ofexercise
glucose
completion
exercise
and15minafter
Blood
concentration
sh0uld
bem0nitored
every
30minduring
continuous
Dranhea
Seefever.
andheaillness
theriskofdehydration
ismild,noparticrpati0n
ispermitted,
becuse
dianhea
mayincrease
Explanotian:
lnlessdisease
disorde6
Eating
ner\/05a
An0texra
Bulimra
nervosa
panrcipation
before
Patentswith
these
disorders
need
medical
andpsychiatrir
asesment
Explonotton:
Eyes
Functionally
oneeyed
athlete
Loso[aneye
retina
Detached
Prevrous
eyesurgery
orseri0us
eyenjiuy

yes
Qualifred
re5

no
0ualified
yes
Qualifed

yes
Qualified

be.r,dqed
onan,ndv,dual
barr
Fever

NO

dangerous
myocarditis
0rother
infections
thatmayrnake
exercise
Heat
illness,
hbtory
of

yes
Qualified

Hepatit
s

Te5

personnel
precautions
fluids
withvisible
blood
when
handling
blood
orbody
should
useuniversal
virus
infection
Human
immunodefi
crency

le5

p e r s o n n e l s h o u d u s epurneicvaeu6tao n s w h e n h a n d l i n g b l o o d o r b o d y f l u i d s w i t h v i s i b l e b l o o d
Kidney,
absence
oIone
(ollisr0n,
andllmited-(0ntact
sp0rts
Arhlere
needs
individual
assessment
f0rroftact,
Explonotion:
Lver,
enlarged
lrmited-c0ntact
sports
areplayed
N4alignant
neoplasm
l\thlere
rcedsindividual
assessment
fxp]lnltion:
Musculoskeletal
disorders
Alhlere
needs
individual
assessment
Explan1tiln:
disordets
Neurologic
c0n(ussi0ns,
0rcrani0t0my
HistOry
0fseri0us
head
0rspine
trauma,
severe
0rrepeated
ofconcusion
c0nservati\/e
appr0ach
tomanagement
wellcontrolled
5eizure
disordet
partkrpation
isminimal
Expllnattan:
Rtsk
ofsetzure
during
poorly
disorder,
controlled
5eizure
maypose
artsk
toselforothers
occunence
ofaseizure
heights
Inthese
sp0rts,
lifting,
strength
training,0r
sp0rts
rnvolving
0besity
penons
andhydtation
need
careful
acclimatiation
oftheriskofheaillness,
obese
Explonotion:
Berause
recrpient
0rgan
transplant
Athlete
needs
individual
asessment
Explanotron
Ovary,absence
ofone

yes
Qualified
ya
0ualified

yes
Qualified
yes
0ua1ified
yes
Qualified

Ie5
yes
Qualified

yes
Oualified
yes
Qualifred
Yes

2850r PARTXXXIr BoneandJointDisorders

fxplonatron:Riskofseuere
injurytotheremaining
ovaryismrnrmal,
ResDrratorv
ronditions
Pulmonary
compromise,
induding
cystic
fibrosis

yes
Qualified

a(climatizatt0n
andqood
hydration
toreduce
theriskofheaillnes
Asthma
fxplonotion
Withproper
medicati0n
andeducation,
onlyathletes
withthemostsevere
asthma
willneed
t0 modittheirparti(ipati0n
Acute
upper
respiratory
infection
fxplonotron:
Upper
respiratory
obstru(ti0n
pulmonary
mayaffect
function
Athlete
needs
individual
asesment
forallbutmilddisease
fever.
See
5irkle
celldisease

Te5
yes
Qualified
yes
Qualifed

mustbea\/oided
Srckle
celltrait

Ye5

hea!humidity,
andpossibly
in(reased
altitude
Ihesepersons,
likeallathletes,
should
becarefully
conditioned,a(ltmatized,
andhydrated
t0reduce
anyposible
risk
(boils,
5kindrsorders
herpes
simplex,
impetigo,
scabies,
molluscum
contagiosum)

yes
Qualified

Spleen,
enlarged

yes
Qualified

(ontad,
c0lltsion,
0rlimited-c0ntact
sp0rts
TeJtr(le,
undescended
orabsence
ofone

Yes

fxpllnItiln: Gtlain sportsmayrequire

a protertive
cup
otheMlse
n0ted,this
isbe(ause
0fvariability
0ftheseverity
0fthedisease,
themsk
ofinjury
f0rthespecific
sports
l6tedi0Tables
685I and685-4,0r
both
[r0mIheAmeritanAcademy0fPediatIK',(0mmifeeon5ponsMedicineandFitne5s:[,4ediCalConditi0n5dfett|ng5p0rtsparti(ipati0

the evaluation shoLrldbe complcte end inclr-rdea 12-lead ECG,

an ECHO, a Holter or cvenr criptLlrcnror.ritor.rno a stresstest
w i t h e l e c t r o c a r d i o g r a p h im
c o n i r o r i n g . R c c o n r m e n d a t i o n sf o r
p a r t i c i p a t i o nw i r h i d c n t i f i c dc a r d i a c d i s e a s es h o L r l db e d o n e i n
c o n s u l t a t i o n$ ' i r h a c r r d i o l o e i s t .
D i s q u a l i fci a t i o n a n d l i m i t a t i o n si o r s p ,r r r sp : r r t i c i p :rror n r r n o n l
various medical conditions are availablc frorn thc American
Academy of Pediatrics(Tablc 68-5-2).Sporrs may irlso be classified by intensiry (Table 68.5-j) end conracr (Tahle 68-5-4).Athlctesmav seekto parriciprtrcin sports againstmedical adviceand

HIGHTOMODERAIE
INTTNSITY
HIGH
TOMODERATT
DYNAMIC
AND
STATIC
DEMANDS
Boxinq*
(reworrowing
(ross<ountry
skiing
tycling
Downhill
skiing
Fencing
Football
lcehockey
Rugby
(sprint)
Running
5peed
skating
polo
Water
Wrestling

HIGHTOMODERATE
DYNAMI(
ANDTOW
STATIC
DEMAI'IDS
Badminton
Baseball
Basketball
Field
hockey
Lacrosse
0rienteefinq
Race
walking
Racquetball
5occer
5quash
Swimmlng
Iable
tennis
Tennis
Volleyball

HIGH
TOIi{ODERATE
STAT|(
At'tD
t0W
DYNAMI(
DEMANDS
Ar(hery
Auto
racing
Divinq
(jumping)
Horsebark
riding
(throwing)
Field
events
6ymnastics
Karate
orjudo
Motorcyding
Rodeo
Sailing
skijumping
Water
skiing
Weight
lifting

(t0wDyNAMtc
tow['tTENStIy
AND
towsTATtc
DEMANDS)
Bowling
Cricket
(urlrng
Golf
Riflery
*Participation
notrecomme0ded
bytheAmerirdn
Academy
ofpediatrics
Fr0m
theAmeri(an
A(a y0fPediatilcs,
Committee
0nspofts
lildi(ln
andtitness:
Medical
conditims
affecting
par
sports
trcipation.Pedi?t
ti 1;107:I208.

CONTAfi
ORCOTI-ISION

tIMI1EDCONTACT

NON(ONTACT

Basketball
Eoxing*
Diving
Field
hocley
Foorball
Tackle
lcehockey'
Lacrosse
Martial
arts
Rodeo
Ruqby
skijumping
Soccer
Team
handball
polo
Water
Wrestling

Baseball
Bicyding
theerleading
[anoeing
orkayakinq
(white
water)
Fencing
tieldevents
jump
High
vault
Pole
Floor
hockey
Football
FlaS
Gymnastics
Handball
Horsebad
riding
Racquetball
5kating
lce
lnline
Roller
5kiing
(ros-counily
Downhill
Water
5kateboarding
5nowboarding
Softball
5quash
Ultimate
frisbee
Volleyball
Windsurfing
orsurfing

Arcnery
Badminton
Body
building
Bowling
(flatwater)
[anoeing
orkayaking
[reworrowing
Curling
Danong
Ballet
Modern
lau
Field
events
Divus
Javelin
Shotput
Golf
0rienteering+
Power
lifting
Race
walking
Riflery
jumping
Rope
Running
5ailing
5cuba
diving
Swimming
Table
tennis
Tennis
Track
Weiqht
lifting

*Participation
notrer0mmended
bytheAmeriran
Acadeny
ofPediatrics
rThe
Ameri(an
Aiademy
0fPediatri6reffmmends
limiting
theam0rnt
0fbody
rhe(king
allowed
iorhockey
playerl5 yea6
andyoungerto
reduce
injuries
'A 6re ((0ntst)
inwhr(hromFtit06usea mapandcompass
t0 frndtheirway
thr0ugh
unfamlltar
teilrory
From
theAmerican
A(ademy
ofPediatric,
[omrnittee
0nsports
l\4edi(ii]e
andFitness:
i\i4edi(al
c0nditions
afectlnq
sports
partiripati0n
Pedidrrlc
2001
J07:1205

Iniury r 2851
of Musculoskeletal
686 r Management
Chapter
have done so successfullyfor pro{essionalsports. Section504(a)
of the RehabilitationAct o{ 1973 orohibits discriminationasainst
d i s a b l e da t h l e t e si f t h e y h a v ec a p a h i l i t i e s / s k i lrl e
s q u i r e dt o p l " y t
competitive sport. This was reinforced through the Americans
with DisabilitiesAct of 1990. An amateurathletehas no absolute
right to decide whether to participate in competicive sports. Participation in competitive sports is considered a privilege, not a
right. Knapp y Northwestern University established that "difficult medical decisionsinvolving complex medical problems can
be made by responsible physicians exercising prudent judgment
(which will be necessarilyconservative when definitive scienrific
evidence is lacking or conflicting) and relying on the recommendations of specialist consultants or guidelines established by a
panel of experts."
!:r:-'lMMll

::::-:++6igur4rrit.f

iljh-:j:at1:]e?ii!1,i,

0VERUSEINJURIES.Overuse iniuries are caused by repetitive

microtrauma that exceedsthe body's rate of repair. This occurs
in muscles,tendons, bone, bursae, cartilage, and nerves. Overuse
injuries occur in all sports but more frequently in sports emphasizing repetitive motion (swimming, running' tennis, gymnastics).
Factors can be categorized into extrinsic (training errors' poor
equipment or workout surface) and intrinsic (athlete's anatomy
or medical conditions). Training error is the most frequently identified factor. At the beginning of the workout program, athletes
may violate the "l07o rule": Do not increase the duration or
intensity of workouts more than 1.0o/"per week. Intrinsic factors
include abnormal biomechanics (legJength discrepancy, pes
planus, pes cavus, tarsal coalition, valgus heel, external tibial
iorsion, iemoral anteversion),muscle imbalance, inflexibilitn and
medical conditions (deconditioning, nutritional deficits, amenor-

|;:::

American Academy of Pediatrics:Medical conditions affecringsports participation. Pediatrics 2001.;107: 1205-1209

American Academy of Pediarrics,American Academy of Family Physicians,
American Medical Sociery for Sports Medicine, American Orthopedic
Societyfor Sports Medicine, American OsteopathicAssociationfor Sports
Medicine: PreltarticipationPhysicalEualuation Monograph, 3rd ed. Minneapolis,MN: McGraw-Hill Medical Publishing,2004
Anderson SJ: Sports injuries. Carr Prob Pediatr Adolesc Healtb Cdre
2005;3.5:105-176
JonhagenS, AckermannP,ErikssinT, et al: Sportsmassageafter eccentricexer
cise. Am I Sports Med 2004;32:7499-1,503
MacArrley D, Best TM: Reducing risk of inlury due to erercise Br Med J
2002;325:451-452.
C)lsenOL,,Myklebust G, IingebretsenI-, et al: Exercisesto preventlower limb
injuries in youth sports: Clusrer randomiz-edcontrolled trtal. Br Med J
2 0 0 5r 3 3 0 : 4 4 9 - 4 2
5.

modified so that after rehabilitation the athlete does not return

to the same regimen and suffer reinjury.
For athletes engaged in excessive training that causes an
overuse injurn curtailing all exercise is not usually necessary.A
rehabilitation program designed to return athletes to their sport
as soon as possible while minimizing exposure to reiniury is indicated. Early identification of an overuse injury requires less alteration of the workout regimen.

histopathology of tendons. Instead' there are scar and abnormal

tissue. Most of these entities are now more appropriately called
tendonopathies, and there is probably little, if any' role for antiinflammatory medication in the treatment except as an analgesic.

EXTREMITY
OFTHEINJUBED
EVALUATION
INITIAL

M E C H A N I S MO F I N J U R Y
ACUTEINJURIES.The majority of muscuioskeletalinjuries are
sprains,strains,and contusions.The history of the injury can be
unclear, but it is especiallyhelpful in assessingknee and shoulder
injuries. More severe injuries, indicative of structural derangement, may have acute signs and symptoms such as immediate
swelling, deformity, numbness or weakness,inability to continue
playing, inability to walk without a limp, a loud painful pop,
mechanicallocking of the joint, or the sensationof instability.A
sprain is an injury to a ligament or joint capsule. A strain is an
iniury to a muscleor tendon. A contusionis a crush injury to any
'l
meaning that
soft tissue. Sprains are graded 1-3 with grade
some fibers have been torn with no evidence of laxity of the ligament when tested on physical examination. A grade 2 means
more fibers are torn resulting in some laxity of the ligament but
a good end point, meaning not all fibers are torn. A grdde 3 sprain
means all the fibers are torn and testing of the ligaments results
in a "mushy" endpoint on physicalexamination. Strainsare also
graded 1-3 with a grade -l causing mild pain with testing the
muscleand very little weakness.Grade 2 injuriescausemore pain
and moderate weaknesswith testine the muscle. Grade 3 muscle
strains are complete rupture of the muscle or tendon and result
in marked weakness and sometimes a palpable defect in the
muscle or tendon.

Initially, the examiner should determine the quality of the peripheral pulses and capillary refill rate as well as the gross motor and
sens;ry function to assessfor neurovascular injury. The first priorities are to maintain vascular and skeletal stability.

GRADE
I

2852r PARTXXXIr BoneandJointDisorders

Criteria for immediate dttention and rapid orthopedic consultation tnc|ude vascular compromise, nerve compromise, and open
fracture. The exposed wound should be covered with sterile

avoid running for 1-2 days, continue to do ankle exercises,

and then resume running at a lower intensity and progress
accordingly.
BELATIVE
RESTAND BETUBN-T0-P GUIDELINES.
Relative rest
means that the athlete can do whatever he or she wants as lonq
as the injured structures do not hurt during or within 24 hi
of the activity. Exercising beyond the pain threshold delays
recovery.

THETRANSITION
FROM
IMMEDIATE
MANAGEMENT
TORETURN
TOPLAY
Rehabilitation of a musculoskeletalinjury should begin on the
day of the injury.
Phase 1: Limit further iniury, control swelling and pain, and minimize strength and flexibility /osses.This requires the use of an
appropriate device such as crutches or a sling, rce, compression, elevation,and analgesia.Crutches,air stirrups for ankle
sprains,slings for arm injuries, and elasticwraps (4-8 in) for
compression are a reasonable inventory of office supplies. Ice
in a plastic bag is placed directly on rhe skin for 20 min
continuously, 3 to 4 times per day until the swelling resolves.
Compression limits further bleeding and swelling but should
not be so tight that it limits perfusion. Elevation ol the extremlty promotes venous return and limits swelling. A nonsteroidal
anti-inflammatory drug or acetaminophen is indicated for
analgesla.
Pain-free isometric strengthening and range of motion should be
initiated as soon as possible.Pain inhibits full musclecontraction; deconditioning results if the pain and resultant nonuse
persist for days to weeks, rhus delaying recovery. Education
about the nature of the injury and the specificsof rehabilitation exercisesincluding handouts with written instructions and
drawings demonstrating the exercisesare helpful.
Phase2: I.mproue strength and range of motioi (i.e., flexibility)
while allowing the injured structures to heal. Protective devices

tive devices may need to be used for months during sports

participation. Swimming, water jogging, and srationary cycling
are good aerobic exercisesthat can allow the injured e*tt.-ity. to be rested or used pain free while maintaining cardiovascular fitness.

Phase 4: Return to exercise or competition without restriction.

\fhen the arhlete has reached nearly normal flexibility,
strength, proprioception, and endurance, he or she can stait
sports-specificexercises.The athlete will make the transition
from the rehabilitation program to functional rehabilitation

DIFFERENTIAT
OIAGNOSES
OFMUSCULOSKETETAT
PAIN
Traumatic, rheumatologic, infectious, hematologic, psychologic,
and oncologic processescan cause the presenting complaint of
musculoskeletal pain. Symptoms such as fatigue, weight loss,
rash, multiple joint complaints, fever, chronic or recent illness,
and persistence of pain suggest diagnoses orher than sportsrelated trauma. Incongruity between the patient's history and
physical examination findings should lead ro further evaluation.
A negative review of systems with an injury history consistent
with the physical findings suggestsa sports-relaredetiology.
i:,ri!r!t+:ir1

, il[l"]i,r:

tjtrGlirr::+=d4ui@niiili++Ew;ti.a;-::+i!!f11*1-ls{!4iL.

Khan KM, CookJL, Kannua P, et al: Time to abandonthe "tendonitis" myth.

Br Med .l 2002;324:626-627.
SharmaP, Maffulli N: Tendon injury and tendinopathy:Healing and repair./
""'"'."_"*:':,,:-_':::::j::",',":;",_*@,
j.*h,ni?,1;46tsii:::=;::!l

. Gnowrn
686.1
PmrrlruluRrrs
Twenty per cent of pediatric sports injuries seenin the emergency
department are fractures. Twenty-five per cent of those fractures
involve an epiphyseal growth plate or physis (see Chapter 682).
Growth in long bones occurs in 3 areas and is susceptible to
injury. Immature bone can be acutely injured at the physis (SalterHarris fractures), the arricular surface (osteochondritis dissecans), or the apophysis (avulsion fractures). Boys suffer about

long bone, and contains articular cartilage ar rhe joint.

following a growth plate injury is a function of location and the

part of the physis fractured. These factors influence the probability of physeal bar formation resulting in growth arrest it that
growth plate. The areas making the largest contribution to longitudinal growth in the upper extremities are the proximal
humerus and distal radius/ulna; in the lower extremities, rhey are
the distal femur and the proximal tibia/fibula. Injuries ro these
areasare more likely to causegrowth disturbance compared with
physeal injuries ar the other end of these long bones. The type of
the physis fracture relative to risk of growth disturbanie is
described by the Salter-Harris classification sysrem (see Table
686-1). A grade I injury is least likely to result in growth disturbance, and the grade V is the most likely fracrure to result in
growth disturbance.

Iniury I 2853
of Musculoskeletal
686 r Management
Chapter

Figurc 686-1. Osteochondritisdissecans,elbow. (From Anderson SJ: Sports

injuries. Czrr Prob Pediat Adolesc Heabh 2005;35:105-175 )

Osteochondritis dissecans(OCD) affects the subchondral bone

and overlying articular surface. \With avascular necrosis of subchondral bone, articular surface may flatten, soften, or break off
in fragments. The etiology is unknown but may be related to
repetitive stress iniury in some patients. In children and adolescents, 517o of lesions occur on the lateral aspect of the medial
femoral condyle, 17"/" occur on the lateral condyle, and 77o occur
on the patella. Bilateral involvement is reported in 13-30% of
cases.Other joints where OCD lesions are also seenare the ankle
(talus), elbow (usually involving the capitellum), and radial head.
OCD classically affects athletes in their 2nd decade. Most
common presentation is poorly localized vague knee pain. There
is rarely a history of recent acute trauma. Some OCD lesions are
asymptomatic (diagnosed on "routine" radiographs), whereas
others are manifested as joint effusion pain, decreasedrange of
motion, and mechanical symptoms (locking, popping, crepitus).
Activity usually worsens the pain.
Physical examination may show no specific findings. Sometimes tendernessover the involved condyle can be elicited by deep
palpation with the knee flexed. Diagnosis is usually made with
plain radiographs(Fig. 686-l). A tunnel view radiograph should
be obtained to better view the posterior 21,ofthe femoral condyle.
Patients with OCD should be referred to an orthopedic surgeon
for further evaluation.
Avulsion fractures occur when a forceful muscle contraction
dislodges the apophysis from the bone. They occur most frequently around the hip (Fig. 686-2). Chronically increased traction at the muscle-apophysis attachment can lead to repetitive
microtrauma and pain at the apophysis. The most common areas
affected are the knee (Osgood-Schlatter and Sindig-LarsenJohannson disease),the ankle (Severdisease)(Fig. 686-3), and
the medial epicondyle (Little League elbow). Traction apophysitis of the knee and ankle can potentially be treated in a primary
care setting. The main goal of treatment is to minimize the intensity and frequency o{ pain and disability. Exercisesthat increase
the strength, flexibilitS and endurance of the musclesattached at
the apophysis, using the relative rest principle, are appropriate.
Symptoms can last for 72-24 mo if untreated. As growth slows,
symptoms abate.

Figure 686-2. Anterior inferror iliac spine avulsion. (From Anderson SJ:
Lower extremity injuries in vouth soorts. Pediafi Clin North Am
2003;49:627-541.)

\Uall E, Von Stein D: Juvenileosteochondritisdissecans'Orthop Clin Nortb

Am 2003;34:341,-353
ZalavrasC, Nikolopoulou G, EssinD, et al: Pediatricfracturesduring skateboarding, roller skating, and scooter riding. Am J Sports Med
2 0 0 5 ; 33 : 5 68 - 5 7 3 .

F'igurc 686-3. Calcaneal apophysitis (Sever disease).(From Anderson

Soortsiniuries. Curr Prob Pediatr AdolescHealth 2O05;35:105-1761

sJ,

2854I PARTXXxl I BoneandJoinl Disorders

686.2o SHoULDER
lrrr.tuRlrs
Shoulder pain associatedwith radiating symproms down the arm
should suggest the possibility of a coexisting neck injury. Neck
pain and tenderness or limitation of cervical range of motion
requires that the cervical spine be immobilized and that the
athlete be transferredfor further evaluation. If there is no neck
pain or tendernessor limitation of motion of the cervical spine,
then the shoulder is the site of the primary injury.

CLAVICLE
FBACTURES
C)neof the most common shoulder injuries is a clavicle fracture.
Injury is usually sustainedby fall on the lateral shoulder,on an
outstretchedhand, or by direct blow. Eighty per cent of fractures
occur in the middle third of the clavicle.They are treated with
an arm sling. Nondisplacedmedial and lateral 3rd fracturesare
usually treatedconservatively.
If displaced,medial and lateral 3rd
fractures require orthopedic consulrarion due to a higher incidence of acromioclavicular osreoarthritis (lateral) and physeal
involvement (medial).
(AC)SEPARATI0N.
ACB0MI0CLAVICULAR
An AC separationmosr
commonly occurs when an athlete sustainsa direit blow to the
acromion with the humerus in an adducted position, forcing the
acromion inferiorly and rnedially.Patientshave discreretendernessat the AC joint and may have an apparenr srepoff between
the distal clavicle and the acromion (Fig. 686-a). Type I AC
injuries involve the AC ligament, have no visible deformity, and
have normal radiographs.Cross-chestmaneuver of the arm will
causesharp pain at the AC joint. Type II injuries, which involve
the coracoclavicularligament, have a slightly more promlnenr
distal clavicle on examinarion, bur radiographs are usually
normal (may show slight widening of the AC yoint). Type I and
II injuries are treated nonoperatively.A sling and analgesicare
useful for pain control. Range of motion exercisesare initiated
after pain is controlled.As the pain-freerangeimproves,strength-

ening of the rotator cuff, deltoid, and trapezius musclescan starr.

Usual return to play is 1-2wk for type land2-4 wk for type II.
When the AC joint is nontender, the shoulder has full range of
motion and the patient has sufficient strength to be funcrionally
protected from a collision or fall and perform the maneuvers
required for the sport, return to play is allowed. Type III injury
has worsened ligamentous tearing with deltotrapezial fascial
detachment from the distal clavicle. Type III inluries should be
treated surgically only in rare cases and mostly for cosmetic
reasons.The majority can be treated in a similar fashion as grade
I and II injuries. Types IV, V, and VI AC injuries have progressive worsening of ligamentous and fascial disruption with worsened clavicular displacement. Fortunately, these injuries are rare
but require surgical repair. If a humeral fracture is present, point
tendernessis noted over the fracture. If a patient has creoitance.
t h e a r m s h o u l d b e i m m o b i l i z e di n a s l i n g ' a n dt h e p a t i e n t t r a n s ferred to an emergency facility.

ANTERIOR
DISTOCATION
The common mechanisms of injury are falling onto an ourstretched hand with a straight arm or making contact with
another player with the shoulder abducted to 90 degrees and
forcefully rotated externally. An example of the latter is a football player tackling another player only with their arm. Parienrs
complain of severepain and that their shoulder "popped out of
place" or "shifted." Patientswith an unreducedanterior dislocation have a hollow region inferior to the acromion and a bulge
in the anterior portion of the shoulder caused by anrerior displacement of the humeral head. Abnormal sensationof the lateral
deltoid region (axillary nerve) ar.rd the extensor surface of the
proximal forearm (musculocutaneous nerve) and the ability to
contract the middle deltoid (resisted abduction) and biceps isometrically should be noted. An attempt to reduce the anteri,ordislocation is indicated, assuming no cripirance is present. Once the
dislocation is reduced and radiographs show a normal position,
immobilization for approximately 1 wk is indicated. The period
of immobilization is controversial, but most sports medicine practitioners believe that early range-of-motion and strengthening
exercisesare important. As the rotator cuff muscles strengthen,
progressivestrengthening occurs at greater degreesof abduction
and external rotation. Patients can return to play when strength,
flexibility, and proprioception are equal to that of the uninvolved
side so that they can protect the shoulder and perform the sportsspecific activities pain free. In most cases,surgery is not recommended unlessthe shoulder has been dislocatedar least 3 times.
Earlier repair may be considered for athletes in high-risk, collision sports because the recurrence rate is very high ir-r those
sports.

ROTATOR
CUFF
INJURY

Figure 68(r-4. Palpitation of acromioclavrcular joint. (F'rom Anderson

Sports injuries Curr Prob Pediatr Adolesc Health 2005;35:10.5-176.)

SJ:

The rotator cuff is formed by the supraspinatus, infraspinatus,

teres minor, and subscapularis.The supraspinatus ls most commonly injured . Rotator cuff tendonopathy is manifestedas shoulder pain at the top of the arc of motion. Pain is usually poorly
localized and may be referred to the deltoid area. The onset may
be insidious. Pain is worse with activity but is often presenr at
rest, including nighttime pain. Strength testing of the cuff muscles
produces pain and may demonstrare some weakness compared
to the uninjured shoulder. Supraspinatustendonopathy produces
pain with active abduction in the "empty can" position in which
the patient abducts the arm to 90 degrees,forward flexes it to 30
degreesanterior to the parasagittal plane, and internally rotates
the humerus. Treatment includes ice, modification of technique,
rest, stretching, strengthening of the rotator cuff and upper
back muscles, physiotherapy, and analgesic.Prevention includes
avoiding overwork, proper technique, and strengthening and

lniury I 2855
of Musculoskeletal
686 I Management
Ghapter
stretching exercises.Sometimesthis is called rotator cuff impingement syndrome in adults becauseof impingement of the cuff by
the bony structures superior to the cuff. Rotator cuff pain in
young athletes is almost always secondary to glenohumeral instability. Stretching alone may make the pain worse, and the most

aspectof rehabilitation
is strengthening
of the cuff
fiTill:t
Glenoid labrum tears may appear like rotator cuff tendonopathy. One of the most common lesions,called a SLAP lesion (superior /abrum antenor and posterior), is difficult to diagnose
clinically. Pain that occurs with clicking or catching in the shoulder is suspicious for a labral tear. Radiographs are usually
resonance arthrosraphy is the best study to
ffiTil:,Yl:netic
Proximal humeral stressfracture (epiphysiolysis)is a rare cause
of proximal shoulder pain and is suspectedwhen shoulder pain
does not respond to routine measures. Gradual onset of deep
shoulder pain occurs in a young (open epiphyseal plates) athlete
involved in repetitive overhead motion, such as in baseball or
tennis, but with no history of trauma. Tendernessis noted over
the proximal humerus; the diagnosis is confirmed by detecting a
widened epiphyseal plate on plain radiographs, increaseduptake
on nuclear scan, or edema of the physis on MRI. Treatment is
rest from throwing for 6-8 wk.

BradleyJP,Elkousy H: Decision-making:Operativeversusnonoperativetreatment of acromioclavicularjoint injuries. Clin SportsMed 2003;2:277-290.

Luime JJ, VerhagenAP, Miedema HS, et al; Does this patient have an instability of the shoulderor a labrum lesion?/AMA 2O04;292:'1,989-7998.
WasserlaufBL, Paletta GA Jr: Shoulderdisordersin the skeletallyimmature
throwing athlete.Orthop Clin North Am 2003;34:427437.

o ELBow
ltr.ruRrrs
686.3
ACUTE
INJURIES
The most common elbow dislocation is a posterior dislocation.
The mechanism of injury is falling backward onto the outstretched arm with the elbow extended. Dislocation potentially
compromises the brachial artery. Intact radial and ulnar pulses
are the best indicators of vascular integrity of the distal upper
extremity. An obvious deformity is noted, with the olecranon
processdisplaced prominently behind the distal humerus. Reduction is performed by gently applying longitudinal traction to the
forearm with gentle upward pressure on the distal humerus. If
reduction is not possible, the arm should be padded and placed
in a sling and the patient transferred to an emergency facility.
Elbow injuries can compromise the radial, median, and ulnar
nerves.
Subracondtlar humeral fractures can result from the same
mechanism of injury as elbow dislocations and can be complicated by coexisting injury to the brachial artery and, to a lesser
extent, the median, radial, and ulnar nerves. An acute compartment syndrome may develop after these fractures (Fig. 686-5).
A blow to the elbow may cause bleeding in the olecranon bursa
resulting in an olecranon bursitis. These rarely require aspiration
and can be managed with ice, analgesia,and compression dressings. An appropriate pad will provide comfort and help prevent
relnlury.

INJURIES
CHRONIC
injuriesoccurprimarilyin throwingsportsand sports
Overuse
that require repetitive wrist flexion or extension or demand

of thecoronoidfat padwith a ioint effusion(fatpad

Fieure686-5.Deflection
sign) showingevidenceof a fracture. (From GomezJE: Upper extremity
injuriesin youth sports.PediatrCIin N Am 2002;49:593-626.1

weight bearing on hands (gymnastics). "Little League elbow" is

a broad term for several different elbow problems.
Throwing overhand creates valgus stress to the elbow with
medial opening of the ioint and lateral compressiveforces.
Medial elbow pain is a common complaint of young throwers
due to repetitive valgus overload of the wrist flexor/pronator
muscle groups and their attachment on the medial apophysis. In
preadolescentswho still have maturing secondary ossification
-etrt.rs, traction apophysitis of tbe medial epicondyle is likely.
Patientshave tendernessalong the medial epicondyle; this is exacerbated by valgus stress or resisted wrist flexion and pronation.
Treatment includes no throwing for 4-6 wk, pain-free strengthening, and stretching of the flexor/pronator group, followed by
1-2 wk of a progressivefunctional throwing program with accelerated rehabilitation. This problem has to be treated with rest
because of the risk of nonunion of the apophysis and chronic
pain. If pain occurs acutely auulsion fracture of the medial epilondyle must be considered. Any thrower with acute elbow pain
should harre radiographs performed (Fig. 686-6). If the medial
epicondyle is avulsed, orthopedic consultation is indicated' In
older adolescentsand young adults, with a fused apophysis, the
vulnerable structure is the ulnar collateral ligament (UCL). UCL
tears are usually seen in pitchers but can be seen in any throwing athlete. Laxity may be appreciated with valgus stress of the
elbow with it flexed to 30 degrees.MRI or ultrasonography is
often necessaryto assessthe integrity of the UCL. If there is a
complete tear, surgical repair is indicated if the athlete wants to
continue a pitching career.Ulnar nerve dysfunction can be a complication of valgus overload and can occur with any of the diagnoses previously discussed.
Lateral elbow pain can be caused by compression during the
throwing motion at the radiocapitellar ioint. Panner disease is
osteochondrosis of the capitellum that presents between ages 7
and 12 yr (Fig. 686-7). OCD of the capitellum presents at age
13-16 yr (seeFig. 686-Il. Thesetwo entitiesmay representa continuum of the same disease.Although patients with both conditions present with insidious onset of lateral elbow pain

285Sr PARTXXXIr BoneandJointDisorders

exacerbated by throwing, patients with OCD have mechanical
symptoms (popping, locking) and, more frequently, decreased
range of motion. Patients with Panner diseasehave no mechanical symptoms and often have normal range of motion. The prognosis of Panner disease is excellent, and treatments consist of
relative rest (no throwing), brief immobilization, and repeat radiographs in 6-1,2 wk to assessbone remodeling. OCD requires
orthopedic consultation.
Lateral epicondylitis, or "tennis elbow," is the most common
overuse elbow injury in adults. It is rare in children and adolescents. It is tendonopathy of the extensor muscle origin on the
lateral epicondyle. Tenderness is elicited over the lateral epicondyle, and pain is felt with passive wrist flexion and resisted
wrist extension. Treatment includes relative rest, analgesia, and
specific stretching and strengthening exercises.Functional rehabilitation, such as returning to playing tennis, should be gradual
and progressive.
Elbow injuries may not be prevented by preseason stretching
and strengthening exercises.The most important consideration
for prevention of elbow injuries in throwers is limitation of the
number of pitches and advising players, coaches,and athletesthat
they should stop immediately when they experience elbow pain.
If it persists, they need medical evaluarion. It has been recommended that a young pitcher pitch no more than 200 pitches per
week and play in no more than 2 games per week. The maximal
number of pitches per game should be approximately 6 times the
pitcher's age in years.
Other less common problems that cause elbow pain are ulnar
neuropathy, triceps tendinitis and olecranon apophysitis, and
loose bodies.
Figure 686-6. Medial epicondylitis.(From Anderson SJ:Sports tnjtries Curr
Prob Pediatr AdolescHeahh 2005:35:105-176 )

: =.-:---:r.ra"i!i!:::+r,:!:i\fitn--+.?+,+*!t!.*14;{?./t+!?.{r!jr+::!.ii4rtih+?r-n.!4!/trt

.::E-;t':j:tr::.E:t-;4r

Assendelft \7, Green S, Buchbinder R, et al: Tennis elbow. Br Med J

2003;327:329-330.
Petty DH, Andrews JR, FleisigGS, Cain EL: Ulnar collateralligament reconsrruction in high school baseballplayers: Clinical results and injury risk

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o LowBncrlru.luRrrs
686.4

Figure 686-7. Pannerdisease.Note fragmentationof the humeral capitellum

and flattening of the articular surface(arrou). (Courtesyof Ralph J. Curtis,
MD From Gomez JE: Upper exrremity injuries in youth sports. pediatr Clin
N Am 2002:49:593-626.)

Spondylolysis, a common cause of back pain in athletes, is a

stress fracture of the pars interarticularis (see Chapter 678.6). lt
can occur at any vertebral level but is most likely at L4 or L5.
Incidence in adolescent athletes evaluated for low back pain is
1347%. Besidesacute hyperextension that causesan acute fracture, the mechanism of injury is either a congenital defect or
hypoplastic pars, which is exacerbated by lumbar extension
loading, or a stress fracture due to repetitive extension loading.
Ballet, weight lifting, gymnastics, and football are examples of
sports in which repetitive extension loading of the lumbar spine
occurs; it occurs in any activity in which there is repetitive extension loading, including swimming. Patients often present with
pain of insidious onset. However, there may be a precipitating
injury such as a fall or single episode of hyperextension.The pain
is worse with extension, can radiate to the buttocks, and can
eventually affect activities of daily living. Rest or supine positioning usually alleviates the pain. On examination, the pain is
reproduced with lumbar extension while standing, especially
when standing on 1 leg (single leg hyperexrension test). Limited
forward spinal flexion and tight hamstrings may be seen. Neurologic examination should be normal. There is well-localized
tendernessto deep palpation just lateral to the spinous process
on the affected side and is usually at L4 ot L5. The diagnosis is
confirmed by finding a pars defect on an oblique lumbir spine
radiograph. The defect is rarely seen on anteroposterior and

Iniuryr 2857
of Musculoskeletal
Ghapter
686 r Management
lateral views. Bone single-photon emission tomography scan is
needed to confirm diagnosis if radiographs are normal. A plain
CT scan can help in the identification of degree of bony involvement and is sometimesused to assesshealing. Treatment includes
pain relief and activity restriction, and rehabilitation consisting
of trunk strengthening, hip flexor stretching, and hamstring
stretching is important in most cases.Antilordotic bracing is controversial and is probably most effective for the stress fracture
type spondylolysrs. Spondylolistbesisoccurs when bilateral pars
defects exist and forward displacement or slippage of a vertebra
occurs on the vertebra inferior to it (see Chaoter 678.6\.
Facetsyndromehas a similar history and physicalexamination
findings as spondylolysis. It is caused by instability or injury to
the facet joint, posterior to the pars interarticularis and at the
interface of the inferior and superior articulating processes.Facet
syndrome can be established by identifying facet abnormalities
on CT or by exclusion, requiring a nondiagnostic radiograph and
nuclear scan to rule out spondylolysis.
Spondylolysis, spondylolisthesis, and facet syndrome are
injuries posterior to vertebral bodies. Treatment of posterior
element injuries is conservative, directed at reducing the extension loading activity, often for 2-3 mo. \(alking, swimming, and
cycling are appropriate exercisesduring rehabilitation.
Lumbar disk herniation presents as back pain that is worse
with forward flexion, lateral bending, and prolonged sitting,
especiallyin an automobile. It is less likely to produce sciatica in
children and adolescentscomoared to adults (seeChaoter 678.8\.
Physicalexamination findingi may be minimal but can include a
positive straight leg raise test, pain with forward flexion, and possibly reduced strength, sensation, or deep tendon reflexes in the
leg. There may be tendernessof the vertebral spinous process at
the level of the disk. MRI usually confirms the clinical diagnosis.
Assuming the herniation is not large and the pain is not
intractable, the treatment of choice is analgesia and physical
therapy. Bed rest or surgery is rarely necessary.
Acute lumbar strain or contusion presentsafter a precipitating
event. Physical examination reveals diffuse tendernesslateral to
the spine. Treatment includes analgesia, massage, and physical
therapy, as tolerated. The natural history of acute back strain in
adults is that 50% are better in 1 wk, 80% in 1 mo, and 90% rn
2 mo, regardless of therapy. The course of back pain in young
athletes is probably similar.
Sacroiliitis presents as lumbar pain that is usually chronic but
occasionally is associatedwith a history of trauma. Patients have
a positive result with the Patrick test, which includes resting the
foot of the affected side on the opposite knee (hip flexed 90
degrees),stabilizing the opposite iliac crest, and externally rotating the hip on the affected side (pushing the knee down and
lateral). A radiograph of the sacroiliac joints is indicated, and if
results are positive, exploration for a rheumatologic disease
(ankylosing spondylitis, juvenile rheumatoid arthritis, ulcerative
colitis) is warranted. Treatment is with relative rest, nonsteroidal
anti-inflammatory drugs, and physical therapy. Ankylosing
spondylitis is more likely if the onset of lower back pain is before
age 40yr, if there is morning stiffness that is associated with
improvement with activitS and if the pain has a gradual onset
and has lasted more than 3 mo.
Other causes of lower back pain include infection
(osteomyelitis, diskitis) and neoplasia. These should be considered in patients with fever,weight loss, other constitutional signs,
or lack of responseto initial therapy. Osteomyelitis of the lower
back or pelvis is often, but not always, associatedwith fever.

JonesG! MacfarlaneGJ: Epidemiologyof low back pain in children and ado

lescents.Arch Dis Child 200590:312-316.

686,5o HtPANDPelvtsltrt.luRlts
Hip and pelvis injuries represent a small percentage of sports
injuries, but they are potentially severeand require prompt diagnosis. Hip pathology can present as knee pain and normal findings on knee examination.
In children, transient synouitis is the most common cause. It
usually presents with acute onset of a limp, with the child refusing to use the affected leg and having painful range of motion on
examination. There may be a history of minor trauma. This is a
self-limiting condition that usually resolvesin 48-72hr.
Legg-Calu4-Perthesdisease (avascular necrosis of the femoral
head) also presentsin childhood with insidious onset of limp and
h i p p a i n ( s e eC h a p t e r6 7 7 . 3 ) .
Until the skeleton matures, younger athletes are susceptibleto
apophyseal injuries (e.g., the anterior superior iliac spine).
Apophysitis presents from overuse or from direct trauma. Auulsion fractures occur in adolescents playing sports requiring
sudden, explosive bursts ofspeed (Fig. 586-8).Large musclescontract and create force greater than the strength of the attachment
of the muscle to the apophysis. The most common sites of avulsion fractures (and the attaching muscles) are the anterior superior iliac spine (sartorius), anterior inferior iliac spine (rectus
femoris), lesser femoral trochanter (iliopsoas), and ischial
tuberosity (hamstrings). Symptoms include localized pain and

fractures. Contact to the bone around the hip and pelvis causes
exquisitely tender subperiosteal hematomas called hip pointers.
Symptomatic care includes rest, ice, analgesia' and protection
Ifom relnlury.
Slipped capital femoral epiphysis usually presentsin the 11-15yt age range during the time of rapid linear bone growth (see
Chapter 677.4).

Figure 686-8. Apophyseal avulsion, pelvis. (From Anderson SJ: Sports

injurtes. Curr Prob Pediatr Adolesc Heabh 2005;35:1'05-176.\

2858r PARTXXXII BoneandJointDisorders

A femoral neck stress fracture may present as vague progressive hip pain in an endurance athlete. Girls with the female athlete
triad are especially are at risk. This diagnosis should always be
kept in mind in the running athlete with vague anrerior thigh
pain. On examination, there may be pain with passive stretch of
the hip flexors and pain with hip rotation. If radiographs do not
demonstrate a periosteal reaction consistent with a stress fracture, a bone scan or MRI may be required. Orthopedic consultation is necessaryin femoral neck stressfractures becauseof their
predispositionto nonunion and displacementwith minor trauma
or continued weight bearing. These fractures carry increasedrisk
of avascular necrosis of the femoral head.
Osteitis pubis is an inflammation at the pubic symphysis that
may be caused by excessiveside-ro-siderocking of the pelvis. It
can be seen in an athlere in any running sport and is more
common in sports requiring more use of the adductor muscles
such as hockey, soccer, and rollerblading. Athletes typically
presentwith vague groin pain that may be unilateral or bilateral.
On physical examination, there is rendernessover the symphysis
and sometimes over the proximal adductors. Adduction strength
testing causes discomfort. Radiographic evidence (irregularity,
sclerosis,widening of the pubic symphysis with osteolysis) may
not be present until symptoms are present for 6-8 wk; a bone
scan and MRI are more sensitive to early changes. Relative rest
for 6-12 wk may be required. Some patients require corricosteroid injection as adjunctive therapy.
Acetabular labrum tears can occur in the hip. similar to elenoid
labrum tears in the shoulder. Athletes -uy hru. a hisiory of
trauma and complain of sharp anterior hip pain associatedwith
a clicking or catching sensarion. Clinical diagnosis is difficult;
magnetic resonance arthrography is useful for diagnosis.
Snapping hip syndrctme is caused by the iliopsoas tendon's
riding over the anterior hip capsule or the ITB over the greater
trochanter. It is commonly seen in ballet dancers and runners; it
may occur as an acute or overuse injury (more common). Athletes present with either a painful or painless click or snap in the
hip, usually located lateral or anterior and deep in the joint.
Examination can often reproduce the symptoms. Radiographs are
not usually needed in the work-up. teatment involves an analgesia, relative rest, biomechanical assessment,and core flexibility/strengthening. The athlete may return to activity as tolerated.

Medial collateral ligament injuries result from a valgus blow

to the outside of the knee. Isolate lateral collateral ligament
injuries are uncommon and result from significant varus knee
stress. Since they are extra-articular, isolated collateral injuries
should not produce much of a knee effusion or disability. Regardless of severity, isolated medial and lateral collateral injuries are
managed nonsurgically with aggressiverehabilitation
Meniscal tears occur by the same mechanismsas ACL injuries.
They are associatedwith hemarthrosis, joint line pain, and often
pain in full flexion. Orthopedic consultation is indicated when a
meniscaltear is suspected.
Patellar dislocations occur most often as a noncontact iniurv
when the quadriceps muscles forcefully contract to exrend-thl
knee while the lower leg is externally rotated. Patellar dislocation
is the second most common cause of hemarthrosis. The oatella
is almost always dislocated laterally, and this morion tears
the medial patellar retinaculum, causing bleeding in the joint. Recurrent episodes of patellar instability are associated with
less swelling. Patellar instability is treated nonsurgically with
a patella-stabilizing sleeve and an aggressive rehabilitation
program.
The physician should inspect for an effusion and obvious
deformities; if any deformity is present, the physician should
assessneurovascular status and transfer the patient for emergency
care. If no gross deformities are present and neurovascular
integrity is intact, initial maneuvers include full passiveexrension
and gentle valgus stress to the knee while it is in extension. If
there is laxity of the knee with valgus stressin full extension, both
the ACL and medial collateral ligament have been injured. The
patient's ability to contract the quadriceps muscles should be
noted. Pain occurring with quadriceps contraction or inability to
contract the quadriceps muscle implies an injury ro the exrensor
mechanism. Tendernessover the medial patella. medial retinaculum, and/or above the adductor tuberile is associated with a
patellar dislocation. Point tendernessis consistent with fracture
or injury to the underlying structure; a medial meniscal rear may
be manifest as tenderness along the medial joint line, however
medial loint line tendernessis not specific for a medial meniscus
tear. Pain or limitation in either passiveflexion or extension while
rotating the tibia (McMurray or modified McMurray tests)
implies a meniscal injury, as do other maneuvers (Fig. 686-9). Lig-

ffi::l;x,J_"

686.6. KNEE
lrrr.tuRlrs
The knee is the most common musculoskeletalsite for complaints
among adolescents.Acute knee injuries that cause immediate disability are likely to be due to fracture, patellar dislocation, anterior cruciate ligament (ACL) iniury, or meniscal tear. The
mechanism of injury is usually a weight-bearing event. After
injury, if a player cannor bear weight within a few minutes, a
fracture or significant iniury internal derangement is more likely.
If a player is able to bear weight and return to play after the
injury, a serious injury is less likely to have occurred. If swelling
of the knee occurs within severalhours of the injury, the swelling
is likely due to a hemarthrosis and a more severeinjury.
The injury most likely ro occur with a hemarthrosis is an ACL
injury. ACL injuries usually occur from being hit directly, landing
off balance from a jump, quickly changing direction while
running, or a hyperexrension injury. Significant swelling and
instability are often presenr.The majority of athleteswith an ACL
iniury will need orthopedic consultation and an ACL reconstruction. Functional bracing without ACL reconstruction
increasesthe risk of meniscal iniury and recurrent instabilitv.
Posterior cruciate ligament injury occurs from a direct blow to
the region of the proximal tibia, such as might occur with a dashboard injury or a fall to the knees in volleyball. Posterior cruciate ligament injuries are rare and are usually treated nonsurgically

ismanifested
aspainor laxitywiththeappropriate

INITIAL
TREATMENT
OFACUTE
KNEE
INJURIES
If a patient cannot bear weight pain free or has clinical signs of
instability, the knee should be immobilized, crutches given, and
plain radiographs obtained. If the patella is dislocated, reducrion
can be achieved with knee extension. Developed as the Ottawa
knee rules, radiographs are required for pediatric patienrs with
knee injury who have any of these findings: isolated tenderness
of patella, fibular head tenderness,inability to flex 90 degrees,
and inability to bear weight both immediately and in the emergency department for 4 steps (regardlessof limping). Straight-leg
immobilizers offer no structural support and are only used for
comfort. If any brace is used, a hinged brace is indicated for stabilization such as an injury when both ACL and medial collateral ligament may have been injured. The leg should be elevated,
and elastic wrap can be applied for compression.

CHRONIC
INJURIES
Patellofemoral stresssyndrome (PFSS)is the most common cause
of anterior knee pain. PFSSis also known as patellofemoral pain
syndrome or patellofemoral dysfunction (see Chapter 6761.lt rs
a diagnosis of exclusion used to describe anterior knee pain that
has no other identifiable pathology. Pain is usually diificult to

Iniury r 2859
of Musculoskeletal
686 r Management
Chapter

ApleyCompression
Test
McMurrayTest
$rValgus

Stress

ano
Extension

Figure 686-9. Examination maneuvers.Right knee shown. Examination mancuversinclude the Lachman, anterior drawer, lateral pivot shift, Apley compression, and McMurray tests.The Lachman test, performed ro detect anterior cruciareligament (ACL) injures, is conductedwith the patient supine and the knee
flexed 20-30 degrees.The anterior drawer test detectsACL injuries and is performed with the patient supine and the knee in 90 degreesof flexion. The lateral
pivot shift tesr is performed with the patient supine,the hip flexed 45 degrees,and the knee in full extension.Internal rotation is applied to the tibia while the
knee is flexed to 40 degreesunder a valgus stress(pushingthe outside of the knee medially).The Apley compressiontest, used to assessmeniscalintegrity, is
performedwith the patient prone and rhe examiner'sknee over the patient'sposterior thigh. The tibia is externallyrotated while a downward compressiveforce
is applied over rhe tibia. The McMurray test, used ro assessmeniscalinregrity,is performed with the patient supine and the examiner standingon the side of
the affectedknee. (From Solomon DH, Simel DL, BatesDW, et al: Does this patient have a torn meniscusor ligament of the knee?JAMA20OI;286:1610.)

localize. Patientswill indicate a diffuse area over the anterior knee

as the source, or they may feel as if the pain is coming from
behind the patella. Bilateral pain is common, and pain is often
worse going up stairs, after sitting for prolonged periods, or after
squatting or running. There should be negative history for significant swelling, as this would indicate a more serious iniury.
History of change in activity is common, such as altered training
surface or terrain, increasedtraining regimen, or performance of
new tasks. Examination should include evaluation of stance and
gait for lower limb alignment, musculature, and midfoot hyperpronation. Flexibility of the hamstrings, ITB, and gastrocnemius
should be assessed,as stressis increasedacrossthe patellofemoral
joint when these structures are tight. Hip range of motion should
be assessedto rule out hip pathology. Medial patellar tenderness
or pain with compression of the patellofemoral joint confirms the
diagnosis in the absenceof an effusion and no other positive findings on the examination. PFSS is a clinical diagnosis usually
managed without imaging. teatment focuses on assessingand
improving flexibilitn strength, and gait abnormalities. In the presence of midfoot hyperpronation (ankle valgus), new shoes or use
of arch supports may improve patellofemoral mechanics and
improve pain. Ice and an analgesic can be used to help control
pain. Reduced overall activity or training is important initially in
rehabilitation. Upon return to activity, starting at 50% of the
usual amount and intensity of work is recommended, with an
increaseof 10%" weekly until full participation is achieved.Maintenance rehabilitation via home exercisesis essential to Drevent
recurrences.Surgery is rarely indicated.

Osgood-Schlatter diseaseis a traction apophysitis occurring at

the insertion of the patellar tendon on the tibial tuberosity (see
Chaoter 676\. Since it is also related to overuse of the extensor
meclanism, Osgood-schlatter diseaseis treated like PFSS.A protective pad to protect the tibial tubercle from direct trauma can
be used. The most common complication is cosmetic; the tibial
tubercle on the affected side (or both if bilateral) may be slightly
more prominent. Patients only need to take time from sports if

It is associatedwith jumping sports but may occur ln runners as

well. Tieatment is similar to that of PFSS.Relative rest is more
important in patellar tendonopathy since chronic pain is associated with irreversible changes in the tendon. ITB friction syndrome is the most common cause of chronic lateral knee pain.
Generally it is not associatedwith swelling or instability' It is due
to friction of the ITB along the lateral knee resulting in bursitis.
Tendernessis elicited along the ITB as it courses over the lateral
femoral condyle or at its insertion at the Gerdy tubercle, along
the lateral tibial plateau. Tightness of the ITB is also noted using
the Ober test. To perform an Ober test, the athlete is side lying
and the superior hip is extended with the knee flexed' The exam-

2860 r PARTXXXI r Bone and Joint Disorders

iner hoids the ankle in midair and if the knee moves inferiorly, it
implies a flexible ITB and a negative Ober test. If the knee and
leg stay in midair, the ITB is tight and the Ober test is positive.
Treatment principles follow those for PFSS, except emphasis is
on improving flexibility of the ITB.

A g e lJ , A r e n d t E A , B e r s h a d s kB
y : A n t e r i o rc r u c i a t el i g a m e n ti n j u r y i n n a r i o n a l
coflegiate
a r h l e t r ca s s o c i a t i o n
b a s k e t b a lal n d s o c c e r A
: l 3 - y e a r r e v i e wA
. m
I S p o r t sM e d 2 0 0 5 ; 3 3 : 5 2 4 - 5 3 0 .
L a B o t z M : P a t e l l o f e m o r asly n d r o m e :D i a g n o s t i cp o i n t e r sa n d i n d i v i d u a l i z e d
treatment.Pbys Sportsmed2004;32:7
V a q u e r oJ , V i d a l C , C u f r i l l oA : I n t r a - a r t i c u l atrr a u m a r i cd i s o r d e r so f t h e k n e e
i n c h i l d r e na n d a d o l e s c e n t sC l m O r t b o D 2 0 0 5 : 4 3 2 : 9 7 - 1 0 6 .

686.7o LowrnLecPRrrrt:
SHtru
SpuwTs,
SrREss
FRRctunts,
ANDCHRoNtc
CoMpARTMENT

increased intracompartmental pressure with exercise. There is

typically a pain-free period of about 10 min at the beginning of
a workout before onset of constant throbbing pain that is difficult to localize. It lasts for min to hr after exerciseand is relieved
by ice and elevation. In a classic case, there is numbness of the
foot associated with high pressure within the corresponding
muscle compartment. The most common compartment affected
is the anterolateral compartment with compression of the peroneal nerve. The physical examination in the of6ce is often
normal but weakness of the extensor hallucis lonsus and
decreasedsensation in the web space between the 1sr ind 2nd
toe may be present.
If CCS is suspected,referral to an appropriate surgeon (orthopedic or vascular) to measure the intracompartmental pressureis
indicated. Treatment is surgical and requires fasciotomy or
fasciectomv to relieve the oressure.

Pell RF 4th, Khanuja HS, Cooley GR: Leg pain in the running arhlete./ Az
Acad Orthop Surg 2004;'12:396404.

SYrunnour

Stressinjury to the bonesof the lower leg occurs on a continuum

from mild injury (shin splints) ro srressftactrre. All occur by an
overusemechanism.
Shin splints, also known as medial tibial stresssyndrome,presents with pain along the medial tibia or both tibiae and is the
most common overuseinjury of the lower leg. The pain initially
appears toward the end of exercise,and if exerciseconrinues
without rehabilitation,the pain worsensand occurs earlier in the
exercise period. There is diffuse tendernessover the lower third
to half of the distal medial tibia. Any focal tendernessor rendernessof the proximal tibia is suspiciousfor a stressfracture. Shin
splints can usually be distinguished from a tibial stress fracture
in which the tendernessis more focal (2-5 cm) and more severe.
Shin splinrs and stressfracture representa continuum of stress
injury to the tibia and are thought to be relatedto tracrion of the
soleuson rhe tibia.
The diagnosiscan be made by history and physical examination. Findings on plain radiographsof the tibia are normal with
shin splints and in tibial srressfractures within the first few wk
of the injury. Afterward, the radiographs may demonstrate
periosteal reaction if a stress fracture is present. Sensitivityof
plain radiographsmay be increasedby obtaining 4 views of the
tibia: anteroposterior,lateral, and both oblique views. A bone
scan is the mosr sensitive test to diagnor. itress fractures; it
demonstratesdiscretetracer uptake at the site(s)of the stressfracture. Increaseduptake may be noted in the presenceof shin splints
but in a fusiform partern along the periostealsurface.If results
of the bone scan are normal, the diagnosisis likely to be shin
splints or chronic comparrment syndrome (CCS). MRI has
replaced bone scans as the most sensitivetool for diagnosisof
stressfracturesin long bones in many medical centers.
The treatment of shin splints and tibial stress fractures is

Being pain free for 7-10 days is recommended before exercise

walking is commenced.
CCS occurs in an athlete in a running sport, usually during a
period of heavy training. It is due to muscle hypertrophy and

686.8o ANKLE
lru.ruRrrs
Ankle injuries are the most common acute athleric injury. Eightyfive per cent of ankle injuries are sprains, and 85% of those are
inversion (foot planted with the lateral fibula moving toward the
ground) injuriei, 5"/o are eversion (foot planted with the medial
malleolus moving toward the ground) injuries, and I0o/o are
combined.

EXAMINATION
ANDINJURY
GRADING
SCATE
In obvious casesof fracture or disiocation, evaluating neurovascular status with as little movement as possible is the orioritv. If
no deformity is obvious, the nexr srep is inspection for edema,
ecchymosis, and anatomic variants. Key sites to palpate for tendernessare the entire length of the fibula; the medial and lateral
malleoli; the base of the 5th metatarsal; the anterior, medial, and
lateral ioint lines: and the navicular and the Achilles tendon
complex. Assessmentof active range of motion (patient alone) in
dorsiflexion, plantarflexion, inversion, and eversion and of
resisted range of motion is indicated.
Provocative testing attempts to evaluare the integrity of the ligaments. In a patient with a markedly swollen, painful ankle,
provocative testing is difficult becauseof muscle spasm and involuntary guarding. It is more useful on the field before much bleeding and edema have occurred. The anterior drawer test assesses
for anterior translation of the talus and competence of the anterior talofibular ligament. The inversion stress rest examines the
competence of the anterior talofibular and calcaneofibular ligaments (Fig. 686-101. In the acute seting, the integrity of ihe
tibiofibular ligaments and syndesmosisis examined by the syndesmosis squeezetest. Pain with squeezingthe lower leg implies
injury to the interosseous membrane and syndesmosis between
the tibia and 6bula, making a severeinjury more suspicious.Athleteswith this injury cannot bear any weight and also have severe
pain with external rotation of the foot. Occasionally the peroneal
tendon dislocatesfrom the fibular groove simultaneously with an
ankle sprain. To assessfor peroneal tendon instabilitn the examrner applies pressurefrom behind the peroneal tendon with resisting eversion while plantar flexed and the tendon will pop
anteriorly. If either a syndesmotic injury or an acute peroneal
dislocation is suspected, orthopedic consukarion should be
sougnt,

IniuryI 2861
of Musculoskeletal
Chapter
686I Management
riate an avulsion fracture of the proximal 5th metatarsal from the
Jones fracture of the proximal 5th metatarsal (a lucency about
2 cm from the proximal end). The former is treated as an ankle
sprain; the latter fracture has an increased risk of nonunion and
requires orthopedic consultation. The talar dome fracture is manifested as an ankle sprain that does not improve. Radiographs on
initial presentation may have subtle abnormalities. Any suspicion
on the initial radiographs of a talar dome fracture warrants
orthopedic consultation and further imaging. In the early adolescent, always look carefully at the tibial epiphysis. Nondisplaced Salter III fractures can be subtle and need to be recognized
early and referred to an orthopedic surgeon promptly.

SPRAINS
TREATMENT
OFANKTE
INITIAT

BADIOGBAPHS

Ankle sprains need to treated with the pneumonic RICE: rest, ice'
compression, and elevation. This should be followed for the first
48-72hr after the injury to minimize bleeding and edema. For
an ankle injurn this consists of crutches and an elastic wrap,
although other compression devices such as an air stirrup splint
work quite well. This allows for early weight bearing with protection and can be removed for rehabilitation. It is important to
start a rehabilitation program as soon as possible.

Anteroposterior, lateral, and mortise views of the ankle are

obtained when patients have pain in the area of the malleoli, are
unable to bear weight, or have bone tendernessover the posterior distal tibia or fibula. The Ottawa ankle rules help define who
may require radiographs(Fig. 686-11). A foot series(anteroposterior, lateral, and oblique views) should be obtained when
patients have pain in the area of the midfoot or bone tenderness
over the navicular or sth metatarsal. It is imDortant to differen-

REHABILI lON. This should begin the day of injury; for those
with pain with movement, isometric strengtheningcan be started.
Important deficits to correct include loss of dorsiflexion, peroneal
these
muscle weakness, and decreased proprioception. Until 'When
deficits are restored, the ankle is vulnerable to reiniury.
determining when an athlete is ready for running, there must be
full range of motion and nearly full strength compared to the
uninjured side. \7hile standing on the uniniured side onlS the

Figure 686-10. Inversion stresstilt test for ankle instability. (From HergenroederAC: Diagnosisand treatmentof ankle sprains A review.Am J Dis Child
1990;144:809 )

Medial view

Lateral view

Malleolarzone

A Posterioredge
or tip of lateral
malleolus-6cm

B Posterioredge
or tio of lateral
malleolus-6
cm

Midjoot zone

C Base of fifth
metatarsal

A seriesof ankle x ray films is requiredonly if

there is any pain in malleolarzone and any of
thesefindings:
. Bone tendernessat A
. Bone tendernessat B
. lnabilityto bear weightboth immediatelyand
in emergencydepartmenl

Figurc 686-1I . Ottawa ankle rules. (From BachmannLM, Kolb E, Koller M!

foot; systematicreview.Br Med I 2003:326:417419.\

D Navicular

A seriesof ankle x ray films is requiredonly if

there is any pain in mid{oot zone and any of
thesefindings:
. Bone tendernessat C
. Bone tendernessat D
. Inabilityto bear weightboth immediatelyand
in emergencydepartment

et a[: Accuracyof Ottawa ankle rules to excludefracturesof the ankle and mid-

2862I PART)O(Xl r BoneandJoint Disorders

.When
athlete is instructed to hop eight to 10 times if possible.
this can be achieved without pain. the athlete can beqan to run.
Starting out with yogging and progressing to r/2speei, '/o ,peed,
and finally to sprints, the athletes musr srop if there is significant
pain or limp. Finally, before returning to sport, the athlete must
be able to sprint and change directions off the injured ankle comfortably. Performing some sport-related tasks is also helpful in
determining readinessfor rerurn to play.
Recurrent ankle injuries are more likely in patients who have
not undergone complete rehabilitation. AnkG sprains are less
likely in players wearing high-top shoes. Proper taping of the
ankle with adhesive tape may provide functional support but
loosens with use and is unavailable to most athletes. Lace-up
ankle bracesare useful for preventing recurrences.They are more
supportive than tape and can be tightened repeatedly during the
course of a practice or a game. Most sports physicians recommend their use indefinitely to help prevenr further sprains.

686.9o Foorlrrt.tuRtrs
Metatarsal stressfractures can occur in any running athlete. The
history is insidious pain with activity that is getting worse. Examination reveals point tenderness over the midshaft of the metatarsal, most commonly the 2nd or 3rd metararsal. Radiographs
may not show the periosteal reaction before pain has been present
for 2 wk or more. teatment is relative rest for 6-8 wk. Shoes
with good arch supports will reduce stressto the metatarsals.
Vague dorsal foot pain in an athlete in a running sporr may
represent a navicular stressfracture. Unlike other stressfractures,
it may not localize well on examinarion. If there is any tenderness around the navicular, a stress fracture should be suspected.
This stress fracture may take many weeks to show up on plain
radiographs so a bone scan or MRI should be obtained to make
the diagnosis. Since this fracture is at high risk of nonunion,
immobilization and non-weight bearing for 8 wk is the usual
treatment. A CT scan should be obtained to document full
healing after the period of immobilization.
Sever disease(calcaneal apophysitis) occurs at the insertion of
the Achilles tendon on the calcaneus and presents as acrivityr e l a t e dp a i n ( s e eF i g . 6 8 5 - 3 ) . I t i s m o r e c o m m o n i s b o y s ( 2 : 1 )
and is often bilateral and usually presents between ages 8 and
13 yr. Tendernessis elicited at the insertion of the Achilles tendon
into the calcaneus, especially with squeezing the heel (positive

is neutral or rhere is mild hyperpronation,tla-in heel lifts will be

'With
helpful to unload the Achilles tendon and its insertion.
optimal management, symptoms improve in 4-8 wk. Generally,
if there is no limp during the athletic activity, young athletes
should be allowed to play with Sever disease.
Plantar fasciitis is an overuse injury resulting in degeneration
of the planrar aponeurosis. Rare in prepubertal children, this
diagnosis is more likely in an adolescentor young adult. Athletes
report heel pain with activity that is worse with first steps of the
day or after several hours of non-weight bearing. Tendernessis

seen at 6 mo. Corticosteroid and extracorporeal shock-wave

therapy are reserved for severe,chronic cases.
Calcaneal stress fracture is seen in the older adolescent or
young adult involved in a running sport. There is heel pain with
any weight-bearing activity. The physical examination reveals
pain with squeezingthe calcaneus.Sclerosismay show up on the
anteroposterior and lateral radiographs after 2-3 wk of pain. A
bone scan or MRI may need to be performed to clinch the diagnosis in some cases.The calcaneusis an uncommon location for
a stress fracture; it is associated with osteopenia (amenorrheic
female). Treatment is rest from running and other weight-bearing
activity for at least 8 wk. Immobilization is rarely necessary.

BachmannLM, Kolb E, Koller Ml et al: Accuracy of Ottawa ankle rules to

exclude fracturesof the ankle and mid-foot; systematicreview.Br Med J
2003;326:41,741,9.
Beynnon BD, Renstriim PA, Haugh L, et al: A prospective,randomizedclinical investigarionof the treatment of first-time ankle sprains.Am I Sports
Med 20O6;34:1,401-1,412.
BuchbinderR: Plantar fascitis.N Engl J Med 2004;350:2159-2166.
Glazer JL, Brukner P, Haverstock BD: Stressfracturesof the foot and ankle
Clin Podiatr Med Surg 2001;18:273-284.
Heyworth J: Ottawa ankle rules for the injured ankle, Br Med I
2003;326:405406.
KennedyJG, Knowles B, Dolan M, Bohne W: Foot and ankle injuries in the
adolescentrunner.Curr Opin Pediatr 2005;1,7:3442.

HEAD
INJURY
Concussionsoccur in over 62,000 high school athletes each year,
with football accounting for 63"/" of cases.Mild brain injury can
occur with or without a loss of consciousness(LOC). The majority of concussions occurring in sports are not associated with
LOC and currently a concussion is any decrement in neurologic
or cognitive function after a traumatic event (Table 687-1) (see
Chapter 671.
Sports concussion is a complex pathophysiologic process
affecting the brain, induced by traumatic biomechanical forces.
Definition, evaluation, and treatment have evolved significantly
over the past 35 yr. Grading scales were published to evaluate
concussion severity, although controversy remained due to multiple guidelines. In March 2005, the 2nd International Symposium on Concussion in Sport concluded that injury grading scales
should no longer be used. Instead, individual response should
guide evaluation and return-to-play decisions. When a concussion is suspected,the athlete should be removed from the activity and medically evaluated. Regular monitoring over rhe initial
few hours following injury is important. The group suggesteduse
of an assessmenttool ca[ed SCAT (Sport Concussion Assessment
Tool) to assistthe clinician in assessingthe athlete.
Concussions can be classified as simple or complex to help
guide management. The most common form of concussion is
simple. It implies an injury that resolves over 7-10 days and does
not involve complications. Simple concussions do not require
neuropsychologic testing and rarely require neuroimaging. The
athlete is held out of activity until asymptomatic, after which
return to activity is gradual. "Cognitive rest," during which
young athletes limit exertion during routine daily tasks as well as
with schoolwork, is important in recovery as well.
Return to play should progressthrough a system of tasks, with
the athlete advancing only if asymptomatic:

687I HeadandNecklniuriesI 2863

Chapter

NECK
INJURIES
The most common injuries to the neck are soft tissue(contusions,
muscle strains, ligament sprains). However, when an athlete complains of midline cervical pain or neck pain on range of motiou,
a neck
has focal neurologic defects,or has lost consciousness,
SYMPTOMS
fracrure must be assumed.The cervical spine should be immobiHeadathe
lizcd and anreroposterior,lateral,oblique, and open-mouth views
Diziness
obtained before the immobilizer is removed. If active flexion and
Feeling
stunned
ornumb
extension cannot be performed, CT should be performed (see
Feeling
dazed
Chaoter 67\.
Feelinq
slow
There is often overlap between cervical sprain, strain, and conSeeing
stars
orflashing
lights
tusion. Several radiographic signs are found to be indicative of
Jinnitis
instability (interspinouswidening, vertebral subluxation, verteSleepines
Blurred
vision
bral compressionfracture, loss of cervical lordosis).MRI is very
Losoffield
ofvision
sensitiveand should be usedto diagnoseand define ligamentous
vision
Double
and spinal cord injuries. After a negative radiographic examinaNausea
tion for fracture (including dynamic flexion and extensionviews)
PHYSICAL
SIGN5
and a normal neurologicalexamination, the neck can be immoPoor
coordination
bilized in a soft collar for comfort. Rest and anti-inflammatory
Poor
balance
medications benefit minor injuries. The collar is gradually withGlasyeyed/vacant
stare
drawn, and range-of-motion exercisesare instituted. The athlete
Vomiting
can return to play once full strength range of motion is restored
5luned
speech
and sport-specific neck function is present' lt is important
questions
Slow
toanswer
maintain a cervical conditioning program to help prevent
to
drre(ions
5lowtofollow
recLlrrence.
distracted/poor
c0n(entrati0n
Easily
(e9,,laughing,
Unusual/inappropriate
emotions
crying)
Cervicaldisk injuriesin sports usuallyresult from uncontrolled
Pe6onality
change
lateral bending. Cervical iniuries are less common than lumbar
Inappropriate
behavi0r
onfieldofplay(eg, running
thewrong
direction)
disk injuries, and they are uncommon rn pediatric patients.
playing
Srgnifrcant
impaired
abrlity
compared
toearlier
inc0nte$
Most cervical disk problems resolve over several mor-rthswith
llodified
ftonQnadian
Academy
ofSport
Medicine
of
[oncussion
[ommittee:
Guidelines
forassessment
dndmanagement
initial rest,immobilization, anti-inflammatorymedications,activsport-related
concussion
Clin
I Sput
Med
20Aq10.21
0twithperm6si0n
ity modification, and cervical traction. Range-of-motion and
FromLandryGL:[entralnervoussy(emtfaumamanagernent0f(0ncussionsinalhlercsPedi?tr(linNAn2A02,49123
741
subsequent strength training are instituted after symptoms
lmprove.
MEMORY
ORORIEiITATION
Unaware
oftimgdate,
orplace
ilnaware
ofperiod,opposition,0r
score
0fqame
General
confusron

INJURIES
PTEXUS
BBACHIAL
'
.

Rest
untilasymptomatic
lightaerobic
exercise;
noresistance
training
" Sport-specifi<training
. Noncontact
drills
' Full-contact
drills
' Game
play
If the arhleteexhibits symptoms of concussion(seeTable 6871), going back to the previous task for at least 24hr is appropritrte. The athlete should not be using medications to treat
svlnptoms.
C,orrplexconcussionsinvolve persistentsymptornsor cognitive
impairment. Athleteswho have symptoms from n-rultipleconcussions are included in this group. Focal neurologicsymptoms may
be present. Symptoms of cognitive impairment include poor
attention or concentration, memory dysfuncrion, irr:itability,
anxiety',depressedmood, sleepdisturbances,persistentlow-grade
headache,lightheadedness,
and/or intoleranceof bright lights or
loud noises.Exertion typically exacerbatesconcussionsymptoms.
Vork-up is more extensivein this group and includesformal neuropsychologictesting. Physicianswho specializein treating this
injury should manage thesepatiencs.
In concussion,CT and MRI are usually normal. !(ith simple
neuroimaging is usually not necessary.However,
cor-rcussir.rr-rs,
neuroimagingshould be usedwhen there is suspicionof intracranial structural pathology due to a focal finding on neurologic
examination or symptoms that are worsening. The risk of
intracranial pathology is increased in the presence of continued emesis,prolonged headache,persistentantegradeamnesia
(poor short-term memory), seizures, Glasgow Coma Scale
score <15, and signs of basal skull fracture or depressedskull
fracture.

The brachial plexus includes nerves originating from C5-T1

and emerging from the spinal column in the deep triangle of the
neck. The upper trunk (C5-6) can be contusedor stretchedduring
football when tackling with the shoulder or having the head
forcefully flexed laterally. Manifestations include unilateral
burning (known as a "burner" or "stinger"), paresthesia,and
weaknessin the ann, usually in a C5-6 distribution manifested

indicated.

Guskicwicz KM. McCrea M, Marshall S\7, et al: Cumulative effectsassociared with recurrent concussion in collegiate football players- IAMA
2003:290:2549-2554.
Krrkwood MW, YeatesKO, Wilson PE: Pediatricsport-relatedconcussion:a
rcview of the clinical managementof an oft-neglecredpopulation. Pediatrics
2 0 0 b :l - : 1 J 5 9 - 1 3 7 1
Landry GL: Cientralnervous systemtrauma managementof concussionsin
athletes.I'ediatr Clin N Am 2002;49:723-741
McCrea M. GuskiewiczKM, Marshall S\X/,et al: Acute effectsand recovery
time following concussion in collegiate football players. JAMA
2003:290:2556-2562.
McCrory P, Johnson K, Meeuwise $V,et al: Summary and agreementstatement of the 2nd Interuational Conferenceon Concussionin Sport, Prague
2004. Clin I Sports Med 2005;15:48-55.
Smits M, Dippel D\{, de Haan GG, et a[: External validation of the Canadian CT head rule and the New Orleanscriteria for CT scanningin patients
with minor head injury. JAMA 2005;294:151,9-1'525.

2854 I PARTXXXI r Bone and Joint Disorders

StiellIG, ClementCM, Rowe BH, et al: Comparisonof the CanadianCT head
rule and the New Orleans criteria in patients with minor head injury. JAMA
200 5;294 :1,5 1,1,-1'5 18.
Zmurko MG, Tannoury TY, Tannoury CA, Anderson DG: Cervical sprains,
disc herniations,minor fractures,and other cervical injuries in the athlete.
Clin SportsMed 2003;22:573-521.

WBGI
"C

"F

<24

<15

) 4 0) 5 9
)6,)9

750-786
79-84

>29

>85

BTSTEAINTs
O|!I
AGIVITITS
Aliactivities
allowed,
butbealert
f0rprodrornes
0fheat-related
ilness
in
pror0nge0
event5
periods
Longer
rest
intheshade;enforce
drinkinq
every
15min
pe60ns
pe60ns
stopactivity
0funacclimatized
andother
wirhhighrisk;
(disallow
limitactivities
0fallothers
lonq-distance
ra(es,
cutdown
furtherduration0f otheradivrtiet
[ancelall athleticactivities

WBGT
isnotairtempeBture
1tind(ates
wtbulbgiobe
temperature,an
index
0fdimati(heatstress
thatcanbemeasured
0nthefieldbytheuseofa psychr0meter.This
apparatus,
available
commercially,
isc0mp0sed
0fthfeethermometetr
0re
(wetbulbIWB])hasawetwrtkaround
ltt0monitOr
humidity
isifsidea hollow
Another
black
ball(globe
[G])tomonitOr
(temperatufe
radiation
]hethlrdisa simple
themometer
airtemperature
lheheatstress
index
6 cacuJTI)t0measure
latedasWBGT=07WBtemp+02Gtemp+0lTtempltisnotewonhythatT0%0fthsrressisduet0h
20%to radiation.and
onlvl0%t0airtemOeratu
Frorn
theAmeri(ar
Academy
0fPediatrict[ommittee
0n5p0ns
Medr(ine
andFitness:(limatic
heatstress
andtheexercising
childandadolescent
Ped,iod6
2000:106:159

produce greater heat per kilogram of body weight than adults

during activity. The sweat rate is lower in children and the tem-

Three categories for heat illness are generally used (heat

cramps, heat exhaustion, heat stroke). However, symptoms of
heat illness overlap and advance as the core temperature rises.
Heat cramps are the most common heat injury and usually occur
in mild dehydration and or salt depletion, usually affecting the
calf and hamstring muscles. They tend to occur later in activitS
as muscle fatigue is reached and water loss and sodium loss

hands and feet during initial exposure to heat; it resolves with

acclimatization. Heat tetany is carpopedal tingling or spasms
caused by heat-related hyperventilation. It responds to moving to
a cooler environment and decreasing respiratory rate (or
rebreathing by breathing into a bag). Hear exhaustion is a
moderate illness with core remperature 100'-10 3'F/37.7"39.4"C. Performance is obviously affected, but central nervous

Patients should be monirored, including recral temperature, for

signs of heatstroke. If rapid improvement is not achieved, rransport to an emergency facility is recommended.

cooling should be ceased when core temperature is

-I0I"-102'F138.3"-38.9'C.
IV fluid at a rate of 800 ml/m2 in
the first hour with normal saline or lactated Ringer solution
improves intravascular volume and the body's ability to dissipate
heat. Immediate transport to an emergency facility is necessary.
Physician clearance is required before return to exercrse.
Dehydration is common ro all hear illness; therefore, measures
to prevent dehydration may also prevent heat illness.Thirst is not
an adequate indicator of hydration status becauseit is initiated
at 2-3yo dehydration. Athletes are advised to be well hydrated
before exercise and should drink every 20 min during exercise
(5 oz for those weighing 40 kg, 9 oz for 60 kg, and 10-72 oz for
those >60 kg). Free accessto cold water should be advocated to
coaches. During a football practice, scheduled breaks every
20-30 min with helmets off to get out of the heat can decrease
the cumulative amount of heat exposure. Practicesand competition should be scheduled in the early morning or late afternoon
to avoid the hottest part of the day. Guidelines have been published about modification of activity related to the wet bulb temperature (Table 688-1). Proper clothing such as shorts and
T:shirts without helmets can improve heat dissipation. Prepractice and postpractice weight can be helpful in determining the
amount of fluid necessary to replace (8 oz for each pound of
weight loss).
'Water
is adequate for most individuals who exercise <1 hr,
although there is evidence that children drink more water when
it is flavored. Fluids with electrolyte and carbohydrate are
more important for individuals who exercise for >1 hr. Salt
pills should not be used by most individuals because of their
risk of causing hypernatremia and delayed gastric emptying.
They may be useful in an individual with a high sweat rate
or recurrent heat cramps. Prolonged exercise (marathon
running) with only water replacement places the arhlete at risk
of hyponatremia.

:.!1,,i(-1

:r:r!*a;qq:,i-+1i::iili*+14jlx1nti4!i|;:.:::.1llglt1f,7.=:i!+r:,1!ne+gi,t:rri$4il.r:1]+i-r:n:*::..r|_!j

Almond CSD, Shin AY, FortescueEB: Hyponatremia among runners in the

Boston marathon. N Engl J Med 2005;15:1150-1155.
AmericanAcademyof Pediatrics,Committeeon SportsMedicine and Fitness:
Climatic heat stress and the exercisingchild and adolescent.Pediatrics
2 0 0 0 ; 10 6 : 15 8 - 15 9 .
Bytomski JR, Squire DL: Heat illness in children. Curr Sports Med Reb
'1::l::,:lt].:"..:,,;ri,,s,..i.iir,:!iei,.,iiil.i,,:iisrs+$s:,i,ri{,,i!iii.*ii=6rrFs:?,iii1il,,:i,-+8,

AidsI 2865
690I Ergogenic
Chapter

Specialconcerns are related to overtraining in young women and

its effect on reproductive function and bone mineral status especially when combined with calorie restriction (see Chapters 27
and 115).
The majority of bone mass is acquired by the end of the 2nd
decade (see Chapter 705). Sixty to 70"/" of adult bone mass is
genetically determined, and the remaining is influenced by three
controllable factors: exercise, calcium intake, and sex steroids,
primarily estrogen. Exercise promotes bone mineralization in the
majority of young women and is to be encouraged. In females
with eating disorders and those who exercise to the point of
excessiveweight loss with amenorrhea or oligomenorrhea, exercise can be detrimental to bone mineral acquisition, resulting in
reduced bone mineral content, or osteopenia.
Specificallg bone mineralization is negatively affected by amenorrhea (absenceof menstruation for three or more consecutive
months). This may be influenced by abnormal eating patterns, or
'When
occurring together, disordered eating,
"disordered eating."
amenorrhea, and osteoporosis form the "female athlete triad."
At health supervision visits and the preparticipation physical
examination, special attention should be given to screening for
any features of the triad.
Amenorrhea in athletes is usually caused by the stress of training or a combination of training with disordered eating. Exerciseinduced amenorrhea should always be a diagnosis of exclusion.
Other causes to be ruled out are pregnancy, pituitary tumors,
thyroid abnormalities, polycystic ovary syndrome, anabolicandrogenic steroid use, and other medication side effects,
The low estrogen state of amenorrhea predisposesthe female
athlete to osteopenia and puts her at risk of stressfractures, especially of the spine and lower extremity. If left unchecked, bone
loss is partially irreversible despite resumed menses, estrogen
replacement, or calcium supplements. Routine bone mineral
density screening is not recommended but may help guide treatment and return to activity in severecases.
Normal ovulation and mensescan be recoveredin athleteswith
amenorrhea. This usually involves either decreasing exercise
amount or increasing caloric intake, or both. However, many athletes are resistant to decreasetheir training, and other methods,
such as hormonal supplementation, should be discussed.Nutritional counseling is important to help the athlete develop a plan
for increasing calories. Calcium intake should be addressed,with
the goal being at least 1,500 mg daily. If amenorrhea is present
for )5 mo, hormonal supplementation is recommended. There
are three eating disorders that can present in the context of amenorrhea: anorexia nervosa, manifest as weight <857o of estimated
ideal body weight with evidenceof starvation manifest as bradycardia, hypothermia, and orthostatic hypotension or orthostatic
tachycardia; bulimia nervosa, manifest as reduced or normal
weight with wider fluctuations of weight than would be expected
based on the reported caloric intake and exercise;and eating disorder not otherwise specified, with some of the features of either
anorexia or bulimia nervosa, yet not meeting all criteria from the
Diagnostic and Statistical Manual of Mental Disorders, 4th
edition, for diagnosis of either (see Chapter 271. Most athletes
who develop the third type of eating disorder are sometimes called
an atypical eating disorder. Multiple symptoms and methods can
occur together, from unhealthy caloric or fat restriction to bingeing and purging. Clues to the problem are weight loss, food
restriction, depression, fatigue and worsened athletic performance, and preoccupation with calories and weight. The athlete

abnormalbehaviorsand unhealthyweight. Generally,exerciseis

if the body weight is <85% of estimatedideal
not recommended
body weight, although there are excePtions,especially if the
athlite is iumenorrheic. If the athlete is unable to gain weight
with nutrition and medicalcounselingalone, then psychologic
consultationis sought.
Most athleteswill not initially admit a problem,and many are
A helpful techunaware of the seriousphysicalconsequences.
nique in talking to theseathletesis to sensitivelypoint out performanceissueJ.Educationabout decreasedstrength' endurance,
and concentration can be a motivating factor for treatment.

aspectsof the eating disorder.

American Academy of Pediatrics Committee on Sports Medicine and Fitness:

Medical concerns in the female athlete. Pediatrics 2000;106:610-612.
Birch K: Female athlete triad. Br Med I 2005;330:244'246.
Greydanus DE, Patel DR: The female athlete before and beyond puberty.
Pediatr CIin N Am 2002;49:553-580.
lWarren MP, Shantha S: The female athlete. Bes, Pract Res Clin Endocrinol
Metab 2000;14:37-53.

2866r PARTXXXI I 36ngandJoint Disorders

acne, and marked striae. Women may have hirsutism, voice deepening, and male-pattern baldness.
Testosteroneprecursors (also known as prohormones) include
androstenedioneand dihydroepiandrosterone (DHEA). Their use
in the adolescentpopulation has increasedmarkedly in conjunction with reports of high-pro61e athleres' use. They are androgenic but have not been proven to be anabolic. If they are
anabolic at all, they work by increasing the production of testosterone. They also increase production of estrogenic metabolites.
The side effects are similar to that of AAS and far outweigh any
ergogenic benefit. Beginning in January 2005, these substances
cannot be sold without prescription.

American Academy of Pediatrics:American Academy of pediatrics policy

statement: Use of performance enhancing substances. pediatrics
2 0 0 5 ; 11 5 : 11 0 3 - 11 0 6 .
The Medical Letter; Performance-enhancingdrugs. Med Lett 2004;46:57-60.
Miah A: Doping and the child: An ethical policy for the vulnerable. Lancet
2O05;366:874-876.
TokishJM, Kocher MS, Hawkins RJ: Ergogenicaids:A reviewof basicscience,
performance, side effects, and srarus in sports. Am
J Sports Med
2004;32:1543-1553.

Gymnastics parricipants are beginning the sport at

and achieving the highest level of comperirion in
often retiring by age 20. Males tend to have more
upper extremity injuries, and females have more lower extremity
injuries. In addition to mechanical or traumatic injuries, femali

stature associated with male and female gymnasrs is probably

caused by selection bias and nor rhe iesult of gymnastici
training.

fibrocartilage complex tears, scaphoid fractures, dorsal ganglions,

and carpal ligament injuries. teatment in almost all cases
involves immobilization for some period, application of ice, and
administration of analgesic drugs. If pain persisrs, the correct
diagnosis can be made by MRI or arthroscopic examination to
rule out intra-articular tears, loose bodies, or ligamentous instability. The pediatrician should have a low threshold for referral
to a hand specialist in a wrist injury that is not improving with
rest. Ligamentous laxity may predisposeto elbow or shoulder dislocation and ankle sprains. Spine problems include spondylolysis
(pars interarticularis stress fracture) and spondylolisthesis (see
Chapter 678.51 due to repetitive extension loading.
SWIMMING. Shoulder injury is the most common overuse injury
of competitive swimmers. Swimmer's shoulder is a combination
of subacromial bursitis and rotator cuff tendonitis usually of the
supraspinatus and is manifested as insidious shoulder pain. Pain,
due to subacromial bursitis, may be produced by the Hawkin
impingement test, in which pain is provoked by passivelyforward
flexing the humerus to 90 degreesand then internally rotating the
humerus. Supraspinatus tendonitis produces pain with active
abduction between 60 and 100 degreesand doing the "emptying
the can" maneuver, in which the patient internally rotates the
humerus at rest and then raises the arm in a plane halfwav
berween forward flexion and abduction. Treatment includes ice,
modification of stroke technique, relative rest, and muscle
strengthening of the rotator cuff and upper back muscles. Prevention includes avoiding rapid increasesin training load, proper
technique, and strengthening exercrses.
BASEBATI.Throwing injuries of the elbow and shoulder (especially among pitchers) are the most common baseballiniuries (see
Chapters 686.2 and 686.3). The most important considerarion is
limitation of the number of pitches and advising players, coaches,
and athletes that they should stop immediately when they experience elbow pain and if it persists,they need medical evaluation.
It has been recommended that a young pitcher pitch no more than
200 pitches per week and that the maximal number of pitches
per game be approximately six times the pitcher's age in years.
Deaths in baseball are rare and are caused by chest wall trauma
with the ball (commotio cordis) (seeChapter 435\ or head injury
with the ball or bat. Batting helmuts need to be worn properly
to try to prevent face and head iniuries.
BALIET, This very demanding acrivity may be associated with
delayed menarche and eating disorders in female dancers (see
Chapter 689). Acute injuries occur, most often of the lower
extremities.As wirh any repeririveactivity, overuse injuries are
likely; the key is to make the correct diagnosis and also consider
the kinetic chain dysfunction that may have contributed ro that
injury. A dancer may have an unrehabilitated ankle sprain,
causing favoring of that leg, leading to a stress fracture of the
contralateral tibia. Foot problems include metatarsal srressfractures, subungual hematomas, callus and bunion formation,
sesamoiditis, and plantar fasciitis. Going en pointe is a quesrion
that young ballet dancers and their parents may ask. An average
age to go en pointe is 12 yr; a function test should be part of that
decision: If the child can go en pointe, holding the position and
not appearing unstable and weak and without pain, then he or
she is probably ready to try dancing en pointe. Ankle problems
include anterior and posterior impingement syndromes because
of the extremes of range of motion in grand pli6 and en pointe,
respectively.Hip problems include both the medial snapping hip
syndrome caused by the iliopsoas tendon's riding over rhe interior hip capsule and tendinitis (piriformis, iliopsoas, rectus
femoris). The piriformis syndrome occurs becauseof the repetitive external hip rotation required in ballet and can manifest as
buttock and hip pain and sciatica.

Iniuriesr 2867
691r SpecificSportsandAssociated
Chapter
WRESTLING.Wrestlers have great fluctuations in weight to meet
weight-matched competition standards. Such fluctuations are
associatedwith fasting, dehydration, and then bingeing.
Wrestling holds may produce injury owing to various torques
or forces applied to the extremities and spine; wrestling throws
with subsequent falls may produce concussions, neck strain, or
spinal cord injury. The two most common sites of injury are the
shoulder and knee. "Stingers" and "burners" are due to a
brachial plexopathy (seeFootball).
Shoulder subluxation is common. Patients are often aware of
their shoulder's slipping in and out (see Chapter 686.2). Hand
injuries are usually not severe and include recurrent metacarpophalangeal and proximal interphalangeal sprains. Treatment of
hand injuries includes splinting and taping.
Knee injuries are common and potentially serious and include
prepatellar bursitis, medial and lateral sprains, and medial and
lateral meniscustears (seeChapter 686.6). Prepatellarbursitis is
caused by acute or recurrent traumatic impact to the mat.
Swelling occurs over the patella, and patients have no limitation
of motion except full flexion. If the skin has been broken, septic
bursitis has to be considered. The physician must try to distinguish traumatic from infected bursitis, which may require aspiration of the bursa. Treatment of traumatic bursitis includes
protective padding, ice, nonsteroidal anti-inflammatory drugs
(NSAIDs), and occasionally aspiration if flexion is impaired.
Rarely bursectomy is needed if there are several recurrences.
Dermatologic problems include herpes simplex (herpesgladiatorum), impetigo, staphylococcal furunculosis or folliculitis,
superficial fungal infections, and contact dermatitis. The first two
are contraindications to wrestling until the infection is no longer
contagious. If recurrent herpes infections occur, suppressiveoral
antiviral agents should be used.
Football. Football continues to be the sport with the highest
number of injuries, and one of the greatest number of participants, and one of the sports with a high injury rate. In terms
of the severity of injury, defined as days lost per injury, the
averageinjury in football is lessseverethan in many other sports.
Most of the injuries are sprains, strains, and contusions that
once treated appropriately result in minimal time away from
football.
Although the majority of catastrophic sports iniuries in the
United States have occurred in football, severeinjuries are rare.
Catastrophic is defined as a fatal injury or a severe iniury with
or without permanent severe functional disability. Disabling
injuries include cervical spine and cerebral injuries.
Head and neck football injuries include concussion, neck
sprain, and brachial plexopathy. The latter is referred to as a
"stinger" or "burner." Lumbar spine injury manifested as low
back pain may represent spondylolysis. Shoulder trauma can
cause glenohumeral dislocation, the majority of which are anterior dislocations, acromioclavicular separations, and clavicular
and humeral fractures.
Contusions to the arm and thigh musclesare common and may
result in large hematomas if not treated aggressively.Assuming
that there is no fracture, treatment includes ice and compression
during most waking hours for the first few days to limit the
expansion of the hematoma and then doing pain-free strengthening and stretching exercisesuntil baseline function is achieved.
Then return to contact can be approved. Sfhen the hematoma is
allowed to oersist and especially if there is a second hematoma
into the firsi. myositis orrifi."nt may develop.
Knee injuries are the most common musculoskeletalcomplaint
at the time of preseasonexaminations. Knee iniuries are discussed
in Chaoter 686.6.
Ankle sprains occur, and the risk of reinjury may be reduced
by rehabilitation and use of a lace-up ankle brace. Turf toe, a
sprain to the first metatarsophalangealjoint, is caused by forceful dorsiflexion while playing on artificial turf in soft, lightweight,
flexible shoes. Treatment of turf toe includes ice. NSAIDs, an

orthotic to limit extension of the great toe, and rest' Turf toe can
be a season-or career-limiting injury.

Common maneuvers of these two

AND V0LLEYBALL.
BASKETBALL
sports include using a ball with your hand, ju.mping' pivoting,
running, and sudden stopping, which increase the risks of ankle'
knee, and finger iniury.
Knee overuse injuries include patellar tendonitis ("iumper's
knee") and traction apophysitis (Osgood-Schlatter disease)..As
with other jumping sports, acute ligament sprains (medial collateral with or without anterior cruciate ligaments) can occur.
Ankle sprain is the most common injury and is usually caused
by inversi,on with plantarflexion, placing, the lateral ligaments
,i trigtt tension. An avulsion fracture of the base of the 5th
metatarsal at the insertion of the peroneus brevis tendon is

Running problems are usually due to an overuse injury

muscle imbalance, a minor skeletal deformitS or poor

shoesare important becausegirls generally have a narrower rearfoot. Those who severelyoverpronate need a motion control shoe
for maximal rearfoot and arch support in the midsole. Those who
mildly overpronate need a stability shoe that has extra support
in the medial midsole and some midsole cushion. Those who
supinate need a cushioned shoe with more shock absorption in
thi midsole, more curved last, and minimal arch support.
Stressfractures of the femoral neck, inferior pubic rami, subtrochanteric area, proximal femoral shaft, proximal tibia, fibula,
navicular, metatarsal, sesamoid, and calcaneal apophysis may
occur. Stress fractures of all bones of the lower extremity can
occur in runners. The most common are in the metatarsals' the
tibia, and the fibula. Those that are the most worrisome in terms
of risk of nonunion are in the anterior proximal tibia, the femoral
neck, and the tarsal navicular. Muscle strains frequently affect the
hamitrings, followed by the quadriceps, hip adductors, soleus,
and gastr"ocnemiusmuscles.Tendonitis involving the tendon and

2868r PABTnul

r BoneandJointDisorders
game under control and penalize dangerous play; and guidelines
for returning to play after a concussion should be followed.

rest. Foot orthotics may be indicated if there is no improvemenr

with the aforementioned treatment. Posterior knee piin can be
caused by gastrocnemius strain, whereas posteromedial pain may
be due to proximal tibial stressfractures or semimembrjttos.rs o,
semitendinosus tendonitis and lateral knee pain may be due ro
iliotibial band syndrome and popliteus tendonitis. Iliotibial band
syndrome may !e a combinarion of bursitis and tendonitis owing
to mechanical friction of the band (an extension of the tensoi

p.oor arch support. teatment includes calf stretching, proper

shoes,night splints, corticosreroid injection, relative rest, ind ice
massageof the heel. Calcaneal stressfracture must be considered
especially in the amenorrheic distance runner.

tial_diagnosisyet are unusual causesof hip pain. All other lower

and upper extremity injuries can occur in soccer.
Concussions occur frequently in soccer. Concussion can lead
to neurocognitive dysfunction, and concussions occur in soccer

forwards so the lamer have to come ro the ball and trap with their
legs; players avoid heading the ball backward to*"id the goal
(with cervical extension); referees, as with all sports, keep"the

TENNIS.Lower extremity injuries occur twice as often as upper

extremity injuries, and, overall, injury rates are similar for boys
and girls. Common areas of injury in tennis include muscles and
tendons of the elbow, shoulder, back, wrist, and abdomen. The
risk of injury is increased by increased training; by unrehabilitated injuries with resultant deficits in flexibility, srrength, and
endurancel and by poor technique. Acute injuries of the lower
extremities include ankle, knee, lower leg, and groin strains.
Overuse injuries of the back and lower and upper extremities
occur. The lower extremity injury patrerns are related to the fact
that for accomplished players, there are an averageof eight direction changesper point, creating eccentric and concentric loads on
the lower extremities. In the back, injuries are related to the
marked and rapid load and direction change associated with

Overuse iniuries include stressfractures of the humerus. ulna. and

metacarpals and traction apophysitis of the calcaneus, tibial
tubercle (Osgood-Schlatter disease), and medial humeral
epicondyle.
Rotator cuff tendonitis is caused by repetitive overuse and mav
be related to anteroposterior glenohumiral instability. Subluxation of the glenohumeral joint may also be presenr. Biceps tendonitis can present as anterior shoulder pain.
Tennis elbow, or lateral epicondylitis, is due to repetitive overload of the wrist extensor/supinator mechanism, especially
the extensor carpi radialis brevis (see Chapter 586.3). Medial
epicondylitis is caused by repetitive overload of the wrist
flexor/pronator muscle groups. This may secondarily involve the
medial collateral ligament; however, the ligament is uncommonly
the site of the primary injury. Medial epicondylar apophysitis
may be associated with ulnar nerve dysfunction if there is an
avulsion fracture. Olecranon apophysitis is similar to OsgoodSchlatter disease and is marked by pain ar the olecranon with
elbow extension.
lfrist problems include an enlarged dorsal ganglion cyst, radiocarpal joint capsular (impingement) synovitis, degenerativeattrition (tears) of the triangular fibrocartilage complex, and fracture
of the hook of the hamate.
Basic treatment includes relative rest, analgesics,application of
ice, .rehabilitation, learning proper mechanics, using properly
sized racquets, protective counterforce bracing (elbow, wristj,
strengthening exercises,and gradual return to tennis. Corticosteroid injections into the extensor/supinator muscle group for
"tennis elbow" are not recommended because the outcome at
1 yr is poorer than for those treated with rehabilitation.
SKllNG.Injuries are related to falls (concussions,contusion, lacerations) and ski-specific mechanisms. Overall iniuries have
declined, partly because of better equipment (boots, bindings,
poles) and slope conditions. It has been recommended that children and adolescentswear helmets for skiing and snowboarding.
Thumb injuries resulting from falls with the thumb in abdui-

Lower extremity injuries include fractures (often spiral) of the

tibia ("boot top") and ankle and anterior cruciaie lisament

Chapter 6!|2 r General Considerations r 2869

sDrainswith or without tibial eminence fracture. Hemarthrosis is

p.ese.rt in fractures and meniscal and anterior cruciate ligament
iniuries. Treatment is noted in Chapter 675.

Hoffman JR, Mower WR, Wolfson AB, et al: Validity of a set of clinical criteria to rule out injury to the cervical spine in patients with blunt trauma.
N Engl J Med 2000;343:94-99'
Maron BJ, Shirani J, Poliac LC, et al: Sudden death in young comPetitive athletes. Clinical, demographic, and pathological profles. JAMA
'1996;276:199-204.

American Academy of Pediatrics Committee on Sports Medicine and Fitness:

Iniuries in youth soccer: A subject revtew. Pediatrics 2000;105:659-661,.
AmericanAcademy of PediatricsCommrtteeon SportsMedicine and Fimess:The managementof minor closedhead injury in children. Pedatria 1999;1,04:1407-7415.
BissetL, Beller E, Jull G, et al: Mobilisation with movement and excercise,
corticosteroid iniection, or wait and seefor tennis elbow: randomised trial.
BMJ 2006;333:939-947.
Boutis K, Komar L, Jaramillo D, et al: Sensitivityof a clinical examinationto
predict need for radiography in children with ankle injuries: A prospective
study. Lancet 2007;3 58:21,78-2721.
Christopher NC, Congeni J: Overuse injuries in the pediatric athlete: Evaluation, initial management, and strategiesfor prevention. Clin Pediatr Emerg
Med 2002;3:178-1,28.
Committee on Sports Medicine and Fitness: Climatic heat stressand the exercising child and adolescent.Pediatrics2000;106:158-159.
Committee on Sports Medicine and Fitness: Medical concerns in the female
athlete. Pediatrics 2000;106 :670-613.
Committee on Sports Medicine and Fitness: Medical conditions affecting
sporrs pafricipatton. Pediatrics 2001;1,07:1,205-1209.
Heidt RS, Sweeterman LM, Carlonas Richelle L, et al: Avoidance of soccer
injuries with preseasonconditioning. Am J Sport Med 2000;28:659-662.

McClain LG, Reynolds S: Sports injuries in a high school. Pediatrics

1989;84:446450.
McCrory PR: Brain injury and headingin soccer.Br Med J 2003;327:351-352.
Nysted M, Drogset JO: Trampoline injuries. Br I Sports Med 2006;40:
984-987.
Smidt N, van der'Windt DAWM: Tennis elbow in primary care. BMI 2006;
333:927-928.
Smidt N. van der Windt DAWM, AssendelftJJ, et al: Corticosteroid iniections,
physiotherapy, or a wait-and-see policy for lateral epicondylitis: A randomized controlled trial. Lancet 2002;359 z657-662.
Solomon DH, Simel DL, Bates D\(, et al: Does this padent have a torn meniscus or ligament of the knee?JAMA 200L;286:161'0-162O.
Speed CA: Corticosteroid injections in tendon lesions. Br Med J
2001;323:382-386.
University Interscholastic League-PreparticipationPhysical Evaluation, 2002.
Search ww.uil.utexas.edu/index.html. Go to Athletics, then to Athletic
forms, then Preparticipation Physical Evaluation.
rWarrenwL, Bailes JE: On the field evaluation of athletic head inluries' C/ln
S|orts Med 1998;17:13-26.

3 - The keletalDysplasias
Section
tal abnormalities. The manifestations may be restricted to the
skeleton, but in most casesnonskeletal tissues are also involved.
The disorders may be lethal in utero or mild with features that

The terms skeletaldysplasias,bone dysplasias,and osteochonrefer to a geneticallyand clinicallyheterogeneous

drodysplasias
group of disordersof skeletaldevelopmentand growth. Their
prevalenceis estimatedto be about 114,000births. They can be
impertypified by osteogenesis
divided into the osteodysplasias
The latter
fecta (seeChapter 6991 and the chondrodysplasias.
for skeletaldevelresultfrom mutationsof genesthat areessential
opmentand growth. The clinical pictureis dominatedby skele-

from mutations of a relatively small Sroup of genes, the "chondrodysplasia genes."

An internaiional Working Group on Bone Dysplasias has
named and classifiedthese disorders into grouPs based on genetic
cause if known or on similarities of clinical and radiographic

Mesenchyme
condensation

Vascular
rnvasron

Hypertrophic
chondrocytes
Figwe 692-7. The importance of cartilage in bone formation. (From
Horton rilUA: Skeletal development: Insights from targeting the
mouse genome.Lancet 2005 ;362:560.)

Cartilage
anlage

Proliferating
chondrocytes

Secondary
ossification
centre

2870! PARTXXXIr BoneandJointDisorders

CHROMOSOMETO(ATION
PROTTIiI
(0L2Al

l 2 q l 3l - q 1 3l

SEDL
(0Ll1A1
i0L11A2
(0MP

\fl22-Q)1
1p2l
6p21
l
19p12-p13
1

t0t9A2
tolgAi
MATN3
(0110A1
FGFR3

lp32
2-p33
20q'13
3
2p2a-p23
6q2l-q22
3
4pl6l

PTHR1

3p21-fl)

DTDST

5q32-q3l

50x9
tBFAl'

17Q43-q251
6p21
9q34
1
1q21
9p21-p1)

LMXlB
CTSK
RMPR

Type
ll collagen
o, chain

PROTTIN
fUNfiION
[artilaqe
protei|l
matrix

CI.INIfiI.PHENOTYPI

OMIM DISTA5EMTCHANISM
INTIERIT

Arhondrogenesis
1l
200610 Dominant
negative
ADHypochondrogenesis
200610 Dominant
negative
AD"
SED
congenita
183900Dominant
negative
AD
Kniest
dysplasia
r56550 Dominant
negatrve
AD
Late-onset
5ED
Dominant
negative
AD
5tickler
dysplasla
108100Haploinsuffciency AD
Sedlin
Intracellular
transporter
X-linked
5ED
tarda
313400 Losoffun(ion
XLR
(artilage
Type
Xlcollagen
c, chain
protein
matrix
Stickler-like
dysplasra
184840Dominant
negative
AD
(artilage
IypeXlrollagen
c2chain
protein
matrix
5tickler-like
dysplasia
215150 Loss
offunction
AR
(artilage
protein cartilage
oligomeric
matrix
pr0tein
matrix
Pseudoachondroplasia
177110 Dominant
negatiire
AD
MED
600969 Dominant
negative
AD
(artilage
Type
lXcollagen
c2chain
protein
matrix
MED
600969 Domjnant
negative
AD
(artilage
IypelXcollagen
o, chain
protein
matrix
MED
600969 Dominant
negative
AD
(a(ilagematrix
Matrilin
3
protein
iUED
600969 Dominant
negative
AD
IypeXrollagen
dr chain
Hypertrophic
canrlage
matrixprotein 5chmid
metaphyseal
chondrodysplasia
156500 Haploinsuffciency AD
FGF
receptor
3
Tyrosine
kinase
rereptor
forFGFs
Thanatophork
dysplasia
I
187600Gain
offuncion
AD.
Thanatophoric
ll
dysplasia
1876106ainoffunction
AD*
Achondroplasia
1008006ainoffun(ion
AD
Hypochondroplasia
146000 Gain
offunction
AD
PTHrP
receptor
Gprotein-coupled
rereptor
f0rPTH Jansen
meuphyseal
ch0ndrodysplasia
156400 Gain
offunctron
AD
andPTHrP
DTD
sulfate
Transmembrane
sulfate
transp0rter Achondtogenesis
1B
60091) Losoffunnion
AR.
transp0rter
Atelo$eogenesis
Il
2560s0 Loss
offunction
AR.
Diastrophi(
dysplasia
222600 Loss
offun(ion
AR
SRY
box9
Iranscription
factor
[ampomelic
dysplasia
114290 Haploinsuffciency AD
(orebindinq
faoor
c subunit
Transcription
factor
0eidocranial
dysplasia
119600 Haplornsufficiency AD
Tran(ription
fa(tor
Nail-paella
dysplasia
161200 Haploinsufficiency AD
[dthepsin
K
Enzyme
Pyknodysostosis
265800 Losoffun(ion
AR
i.4itochondrial
RNA-procesing
enzyme
tHH
250250 Loss
offunction
AR
RNA-procesing
endoribonudease

*Usualiy
lethal
Ako(alled
RUNX2
loepiphyseal
dysplasia;5RYsex-determining
regmn
oftheychrom0s0me

manifesrirtions,which often implv a common pathogenesisand a

g e n c s ,s u c h a s F C i F R . l ,i n w h i c h t h e d i s t r i b u t i o ni s d i s c o n t i n u ous. Becauscn-rostclinicians and most referencematerials refer

to the disordersas disrinct entities, this vernacular conlnues ro
be used.

in Man (OMIN{) Inrernersire (seerhe references).

CLINICAL
MANIFESTATIO
NS
ndrodysplasiasrs disrefers to a disproporosr disorders exhibit
of disproportion may

be difficult to appreciate,especiallyin premarure,obese,or edemarolrs infants. Disproportionateshorteningof the limbs should

be suspectedif the upper limbs do nor reach the mid-pelvis in
infancy or the upper thigh after infancy. Disproportionaie shortening of the trunk is indicated by a short neck, srnall chest, and
protuberanr abdomen. Skeletaldisproportion is usually accompanied by short stature (length and height below rhe 3rd per,
centile); these measuremenrsmay occasionally be within the
low-normal range early in the course of certain conditions.

PROETEM

EXAMPI.T

Lethality*
Assocrated
anomaliel
5hortstature
(ervrcal
spine
dislocatrons
Severe
limbbowrng
Spine
curvatures
(lubfeet
Fractures
Pneumonias,
aspirations
Spinal
cord
compresion
(hips,
problems
Joint
knees)
Hearing
los
Myopra/cataracts
lmmunodefciencyt
Poor
image
body
Sex
revesal

Thanatophoric
dysplasra
Ellis-van
[reveld
syndrome
(ommon
toalmost
all
Larsen
5yn0rome
Metaphyseal
dysplasia,
typekhmid
l\,letatropic
dysplasia
Diastrophic
dyspla5id
Osteogenesis
imperfe(ta
[ampomelk
dysplasia
Achondroplasia
Mostskeletal
dysplasias
(greatest
[ommon
withdeftpalate)
5tickler
syndrome
Cartilage-hair
hypoplasia,
5chimke
immuno-osseous
dysplasia
Variable,
butcommon
toall
(ampomelic
dysplasia

*/V1ost1y
duetoseverely
redu(ed
size0fth0rax
'SeeTable
692-l
'Atlentfour
additi0ndl
disorder,all
involving
themetaphysetcan
have
immunodeficiency

r 2871
692 r Generalgont16s161isn5
Chapter

ANOMAI.Y

EXAMPTE

Heart
defects
Polydxtyly
0eftpalate
Ear
cysts
cord
compresron
5prnal
Encephalocele
Hemivertebrae
Miaognahia
Naildysplasia
oligodontia
[onical
teeth,
Multiple
oralfienulae
imperfecta
Dentrnogenesis
Pretibial
skindimples
retindl
detachment
Cataracts,
aoesia
lntes|nal
(y$s
Renal
(ampodactyly

syndrome,-leune
syndrome
Ellisvan[reveld
Majewski
type
5hortnbpolydactyly,
Drastrophic
dysplasia
Diastrophic
dysplasia
Achondroplasia
Dysegmental
dysplasia
Dysegmental
dysplasia
Gmptomelrc
dysplasia
Ellis-van
Ireveld
syndrome
syndrome
Ellis-van
Creveld
(reveld
syndrome
fllis-van
0steogenesis
imperfecta
(-amptomelic
dysplasia
Stickler
syndrome
5aldino-Noonan
5aldino'Noonan
Diasrophic
dysplasia
Thanatophoric
dysplasia
pun(tata
[hondrody$rophica
Drastrophic
dysplasia
hypoplasia
[artilage-hair
Robrnow
syndrome
A(fodysostosis
dysplasia
0eidoaanral
Robinow
syndrome
Metatropic
dysplasia
Beemer-Langer
syndrome
imperfecta
0steogenesis

Cranrosynostosis
lchthyosis
Hitchhrker
thumb
har
Sparse
scalp
Hypertelorlsm
nasal
bridge
Hypoplastic
aragenesis
0avrcu
Genital
hypoplasia
Ta
il
0mphalocele
BJue
scera

There ma,valso be disproportionateshorteningof different segments of rhe limbs; the particular patrern rnay provide clues for
specificdiagnoses.Shorteningis greatestin the proxirnal segments
(upper arms and legs)in achondroplasia;this is termcd rhizomelic
shortening.Disproporrronateshortening of the middle sellments
(forearms ancl lower legs) is called mesomelic shortening;
involvesthe hands and feer
acromelic sl-rorter-ring
With some exceptions,there is a strong correlatiou betweenthe
age at onset irnd the clinical severity.Many of the lethal neonatal chondrodysplasiasare evident during routine fetarlultresound
performed at the end of the 1st trimester of gestaexar.ninations
tion (seeTable 692-41.Gestationalstandardsexist for long-bone
are often detectedbetweenbiparietaldiamlengths;discrepancies
eter of the skull and long-bone lengths.Many disordersbecome
apparent around the time of birth; others manifest during the 1st

FATAI-*
USUAITY
(different
types)
Achondrogenesis
Thanatophoric
dyplasia
(different
types)
Short
ribpolydactyly
Homozygous
arhondroplasia
[ampomelrc
dysplasia
type
dysplasia,
5ilverman-Handmaker
Dyseqmental
imperfecta,
typell
0$eogenesis
f0rm)
Hypophosphaasia
k0ngenital
(rhizomelic
punctata
iorm)
[hondrodysplasra

MOST
COMMOI'I
Achondroplasra
(types
l,lll,lV)
imperfecta
Osteogenesis
c0ngenita
dysplasra
Spondyloepiphyseal
Diastrophic
dysplasia
syndrome
Ellrs-van
Ireveld
tESS(0MM0ti
(some
punctata
forms)
[hondrodysplasia
Kniest
dysplasia
dysplasid
Metatropi(
dysplasia
mesomelic
Langer

yr of life. A number of disorderspresentin early childhood and

a few in late childhood or later.

genita, sex reversal in campomelic dysplasia,congenital heart

malformations in Ellis-van Creveld syndrome' immunodeficiency
in cartilage-hairhypoplasia,and renal dysfunction in asphyxiating thoraiic dystrophy. These nonskeletal problems provide valuabie clues to specificdiagnosesand must be managed clinically
( s e eT a b l e 6 9 2 ' 3 1 .
HISTSRY.A family history may ideniAMILY ANtl ftEPR0CIUCTiVE

plasias,especiallyneonatal lethal variants.

Even thbugh most of the skeletal dysplasias are genetic. it is
common to have no family history of the disorder. New mutations are common for autosomal dominant disorders,especially
lethal disordersin the perinatal period (thanatophoricdysplasia'
osteogenesisimperfecta).The majority of achondroplasiacases
,esuli from new mutations. Germ cell mosaicism, in which a

FATAI.
OFTEN
(Jeune
syndrome)
th0racic
dystrophy
Asphyxiatlng
FATAIOCOSIONATTY
EllisvanIreveld
syndrome
dysplasia
Diastrophic
Meutropic
dwarfsm
Kniest
dysplasia
*Afewpd0nged
rep0fted
ofthese
dsorders
turviv06
hav
been
inmost

Radiographic evaluation for a chonde plain films of the entire skeleton.

identify which bones and which parts

2812. PARTXXXI I BoneandJoint Disorders

of bones (epiphyses,meraphyses,diaphyses)are most affected. If
possible,films taken at different agesshould be examined because
the radiographic changes evolve with time. Films taken before
puberty are generally more informative becausepubertal closure
of the epiphysesobliterates many of the signs needed for a radiographic diagnosis.

DIAGNOSIS

be able to gather most of this information and, in consultation

with_ a radiologist, diagnose rhe common chondrodysplasias. A
number of referencetexts and online databasesprovide information about the disordersand comprehensivelisis of current references.For less common disorders and for infants and children
whose phenotypes do not closely match well-establishedclinical
phenotypes, consultation with experts in the bone dysplasia field
is warranted.

Molecular genetic resting for chondrodysplasiasmay be useful,

especially for disorders in which recurrent mularions occur
(typical achondroplasia has the same FGFR3 murarion). Muta-

autosomal recessivemanner, and a limited number of mutant

alleles have been found. If the mutations are identified in the
patient, they should be derectable in the parents and potentially
used for prenatal diagnosis. Nonetheless,most chondrodysplasia
mutations tend to be dispersed throughout host genes and -ay
be specific for that family. This phenomenon makes their detecl
tion more difficult and currently reduces the usefulnessof such
testing for diagnostic purposes.

tions in these genes give rise to a wide range of chondrodysplasia clinical phenotypes.
Mutations at the COL2A1 and FGFR3 loci illustrate different
genetic characteristics. COL241 mutations are distributed
throughout the gene with few instancesof recurrencein unrelated
persons. In contrast, FGFR3 mutations are restricted to a few
locations within the gene, and occurrence of new mutatlons at
these sites in unrelated individuals is the rule. There is a strong
correlation between clinical phenotype and mutation site for
FGFR3, but not COL2A1, mutarions.

proteins cause diseasewhen only 1 of the 2 copies (alleles)of the

relevant gene is mutated (haploinsuffciency). These mutations
usually act through a dominant negarive mechanism in which the

to form triple helices, most molecules contain at leasr 1 mutant

chain. It is not known how many mutant chains are required to
produce a dysfunctional molecule but, depending on the mutation, it theoretically could be as few as 1.
Mutations involving type X collagen differ from the model iust
described. They map to the region of the chain that is responsible for chain recognition; the chains must recognize each other
before they can assembleinto collagen molecules. Mutations are
thought to disrupt this process. As a result, none of the mutant
chains are incorporated into molecules. This mechanism is haploinsufficiency becausethe products of the mutant allele are functionally absent and the normal allele is insufficient for normal

ligands.
_ Regardless of genetic mechanism, the mutations ultimately
disrupt endochondral ossification, the biologic process responsrble for the development and linear growth of the skeleton (see
Fig. 592-1l.Indeed, a wide range of morphologic abnormalities
of the skeletal growth plate, the anatomic structure in which endochondral ossification occurs, have been described in the
chondrodysplasias.

TREATMENT
The first step is to establish the correct diagnosis.This allows one
to predict a prognosis and to anticipate the medical and surgical
problems
.associatedwith a particular disorder. Esrablishing a
diagnosis helps to distinguish berween lethal disorders and nonlethal disorders in a premature or newborn infant (see Tables
692-4 and 692-5). A poor prognosis for long-term survival

. A number of chondrodysplasia geneshave

6le 694-11.They encode several categories
cartilage matrix proteins, transmembrane

to cope. Each disorder has its own unique set of problems, and
consequently management must be tailored to each disorder.
Medical information for a few disorders can be found at the
Medical Information on Dwarfism website (seereferences).

Chapter 693

There are a number of problems common to many chondrodysplasias for which general recommendations can be made.
Children with most chondrodysplasias should avoid contact
sports and other activities that cause injury or stress to joints.
Good dietary habits should be established in childhood to prevent
or minimize obesity in adulthood. Dental care should be started
early to minimize crowding and malalignment of teeth. Children
and relatives should be given the opportunity to participate in
support groups, such as the Little People of America and Human
Growth Foundation.
Two controversial approaches have been used to increase bone
length. Surgical limb lengthening has been employed for a few
disorders. Its greatest success has been in achondroplasia in which
nonskeletal tissues tend to be redundant and easily stretched. The
procedure is usually performed during adolescence. Pharmacologic doses of human growth hormone comparable to those used
to treat Turner syndrome have also been tried in several disorders; the results have been equivocal.

References
Apajasalo M, Sintonen H, Rautonen J, et al: Health-related quality of life
patients with genetic skeletal dysplasias. Eur J Pediatr 1998;157:114-121.
Hall JG, Froster-Iskenius UG, Allanson JE: Handbook of Normal Physical
Measurements. Oxford, Oxford University Press, 1989.
Horton WA: Skeletal development: insights from targeting the mouse genome.
Lancet 2005;362:560-569.
Horton WA, Hecht JT: Chondrodysplasias: general concepts and diagnostic
and management considerations. In Royce PM, Steinmann B (editors): Connective Tissue and Its Disorders, Molecular, Genetic and Medical Aspects,
2nd ed. New York, Wiley-Liss, 2002, p 901.
Krakow D, Williams J, Poehl M, et al: Use of three-dimensional ultrasound
imaging in the diagnosis of prenatal-onset skeletal dysplasias. Ultrasound
Obstet Gynecol 2003;21:465472.
Lachman RS: Neurologic abnormalities in the skeletal dysplasias: A clinical
and radiological perspective. Am J Med Genet 1997;69:33-43.
Rimoin DL, Lachman RS Unger S: Chondrodysplasias. In Rimoin DL, Connor
JM, Pyeritz RE, Korf BR (editors): Emery and Rimoin's Principles and Practice of Medical Genetics, 4th ed. New York, Churchill Livingstone, 2002,
p 4071.
Spranger J, Maroteaux P: The lethal osteochondrodysplasias. Adv Hum Genet
1995;19:1-103.
Spranger JW, Brill PW, Poznansk A: Bone Dysplasias. An Atlas of Genetic Disorders of Skeletal Development, 2nd ed. New York, Oxford University
Press, 2002.
Taybi H, Lachman RS: Radiology of Syndromes, Metabolic Disorders, and
Skeletal Dysplasias, 4th ed. New York, Mosby, 1996.
Online Resources
Medical Information on Dwarfism: Available at medical.lpaonline.org
(accessed 9/14/06).
On-Line Mendelian Inheritance in Man (OMIM): Available at www.ncbi.nlm.
nih.gov/entrez/query.fcgi?db=OMIM (accessed).

Jacqueline T. HBBM

Some bone and joint disorders result from functional disturbances of cartilage matrix proteins. They fall into four groups

Disorders Involving Cartilage Matrix Proteins

2873

corresponding primarily to the defective proteins: three coIiagens

and the noncollagenaus proteins COMP (cartilage oligomoric
matrix protein) and matrilin 3. The clinical phenotypes differ
between and within the groups, especially the spondyluepiphyseal dysplasia (SED) group. In some groups, there is substantial
variation in clinical severity.

SPONDYLOEPIPHYSEAL DYSPLASIAS
The term spondylwpiphyseal dysplasia refers to a heterogeneous
group of disorders characterized by shortening of the rmnk and,
to a lesser extent, the limbs. Severity ranges horn achondrogenesis type TI to the slightly less severe hypochondrogenesis (these
two types are lethal in the perinatal period) to SED congenita and
its variants, including Kniest dysplasia (which are apparent at
birth and are usually nonlethal), to late-onset SED (which may
not be detected until adolescence or later]. The radiographic hallmarks are abnormal development of the vertebral bodies and of
epiphyses, the extent of which corresponds to the &ical severity. All the SEDs result from heterozygous mutations of COL2AI;
they are aurosomal dominant disorders. The mutations are dispersed throughout the gene; there is a poor correlation between
the mutation's location and the resultant clinical phenotype. For
familial cases, prenatal diagnosis is possible if the mutation is
identified. Schimke immuno-osseous dysplasia may be an exception because it is an autosomal recessive disorder characterized
by short stature, hyperpigmented macules, unusual facies, proteinuria and progressive renal failure, cerebral ischemia, and a Tcell defect with lymphopenia and recurrent infections.
LETHAL SPONDYLOEPIPHYSEAL DYSPLASIAS. Achondrogenesis
type 11 (OMIM200610) is characterized by severe shortening of
the neck and trunk and especially the limbs and by a large, soft
head. Fetal hydrops and prematurity are common; infants are
stillborn or die shortly after birth. Hypochandrogenesis (OMM
200610) refers to a clinical phenotype intermediate between
achondrogenesis type I1 and SED congenita. It is typically lethal
in the newborn period.
The severity of radiographic changes correlates with the clinical severity (Fig. 693-1). Both conditions produce short, broad
tubular bones with cupped metaphyses. The pelvic bones are
hypoplastic, and the cranial bones are not well mineralized. The
vertebral bodies are poorly ossified in the entire spine in achondrogenesis type 11 and in the cervical and sacral spine in
hypochondrogenesis. The pedicles are ossified in both.
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA. The phenotype of
this group, SED congenita (OMIM 183900), is apparent at birth.
The head and face are usually normal, but a cleft palate is
common. The neck is short and the chest is barrel shaped (Fig.
693-2). Kyphosis and exaggeration of the normal lumbar lordosis are common. The proximal segments of the limbs are shorter
than the hands and feet, which often appear normal. Some infants
have clubfoot or exhibit hypotonia.
Skeletal radiographs of the newborn reveal short tubular
bones, delayed ossification of vertebral bodies, and proximal limb
bone epiphyses (Fig. 693-3). Hypoplasia of rhe odontoid process;
a short, square pelvis with a poorly ossified symphysis pubis; and
mild irregularity of rnetaphyses are apparent.
Infants usually have normal developmental milestones; a waddling gait typically appears in ea;ly childhood, Childhood
complications include respiratory compromise from spinal
deformities and spinal cord compression due to cervicomedullary
instability. The disproportionateness and shortening become progressively worse with age, and adult heights range horn 95 to
128 cm. Myopia is typical; adults are predisposed to retinal
detachment. Precocious osteoarrhritis occurs in adulthood and
requires surgical joint replacement.

2874r PARTXXXI r BoneandJointDisorders

rubular bones u.ith cuppcd nlcrapnyses

KNIEST
DYSPLASIA.
The Kniestdysplasia
varianrof SED(OMIM
156-550)
presenrs
at birth wirh a short rrunk and limbs associatedwith a flat face,prominenreyes,enlarged
joints,cleftpalate,
and clubfoot. Radiographsshow vertebialdefectsand short

F i g u r c r i 9 3 - 3 . R a d i o g r a p ho f s p o n d y l o e p i p h y s edayl s p l a s i ac o n g c n i t ap e l v i s
demonstrating squared pelvis, hypoplastic capital femoral epiphyses,and
femoral necks thar are wide and short,

may occur as a late complication. Joint enlargementprogresses

during childhood and becomes painful; it is accompanied by
flexion contracturesand muscle atrophy, which may be incapacitating by adolescence.
LATE-ONSET
SPONDYt0EPIPHYSEAt
DYSPLASIA.
This term refers
to a mild ro very mild clinical phenotypecharacterizedby slightly
short stature associated with mild epiphyseal and vertebral
abnormalities on radiographs. It is typically detected during
childhood or adolescencebut may go unrecognizeduntil adult-hood when precociousosreoarrhritisappears.This designationis
nosologicallydistinct from SED tarda, which is clinically similar
but results from mutation of rhe X-linked sene SEDL.

(HEREDITABY
STICKTEB
DYSPTASIA
OSTEOARTHROOPHTHALMOPATHY}
I

A
F ' i g u r e6 9 3 - 2 .
c o n g e n i t ai s s h o w ni n i n f a n c y/ A J
_ S p o n d y l o e p i p h y sdevasl p l a s i a
and early childhood (8, C/. Nore the shorr exrremiries,relarively normal
hands, flat facies,and exaggeratedlordosis.

Short stature is not a feature of Stickler dysplasia (OMIM

184840). It resemblesSED becauseof its joint and eye manifestations. Mutations of genes encoding type XI collagen, which
functionally interacts with type II collagen, have been identified
in Stickler-like disorders (OMIM 1.84840, OMIM 215150).
Stickler dysplasiais often identified in the newborn becauseof
cleft palate and micrognathia (Pierre Robin anomaly). Infanrs
typically have severemyopia and additional ophthalmoiogiccomplications, including choroidoretinal and vitreous degeniration;
retinal detachment is common during childhood (Fig. 693-4).
Sensorineuralhearing loss may arise during adolescenie,which
is when symproms of osteoarthritis may also begin. Specialattention must be given to the eye complications even in childhood.

p161gin5
r 2875
InvolvingGafiilagery1t1rix
693 r Disorders
Chapter

opmental milestonesand intelligence are us.uallynormal. Lumbar

lordosis and deformities of the knee develop during childhood;
the latter frequently requires surgical correction' Pain is common
in weight-bearing joints during childhood and adolescence,
leadinito osteoarthritis late in the 2nd decade of life. Adults
."trg. in height from 105 to 128 cm.
Sleletal radiographs show distinctive abnormalities of vertebral bodies and of both epiphyses and metaphyses of tubular
b o n e s( F i g . 6 9 3 - 8 ) .
The MED phenotype has skeletal abnormalities that predominantly affect the epiphysesas noted on radiographs. Two classic
formi are a sevei. Fairbank type and a mild Ribbing type'
Becauseof overlap in clinical features and becauseCOMP mutations are found in both types, they may be considered clinical
vanants.

Figurc (r93-.1"Stickler syndrome in mother and child. The faciesare flet and
the evesare orominent

DYSPLASIA
METAPHYSEAT
SCHMID
Schmid metaphysealdysplasia(OMIM 156500) is one of several
chondrodysplasiasin which metaphysealabnormalitiesdominate
the radiographic features. It typically presents in early childhood
with mild short stature, bowing of the legs, and a waddling gait
(Fig. 693-5). Enlargement o{ joints, such as the wrist, may be
found. Radiographs show flaring and irregular mineralization of
the metaphysesof tubular bonesof the proximal limbs (Fig. 6936). Coxa vara is usually present and may require surgical correction. Short stature becomesmore evident with age and affects
the lower extremities more than the upper extremities; the manifestations are limited to the skeleton.
Schmid metaphyseal chondrodysplasia is due to heterozygous
mutations of the gene encodingtype X collagen;it is an autosomal dominant trait. The distribution of type X collagen is
restricted to the region of growing bone in which cartilage is converted into bone. This may explain why radiographic changesare
confined to the metaphyses.

ANDMULTIPLE
PSEUDOACHONDROPLASIA
DYSPLASIA
EPIPHYSEAL
(OMIM 177170) and multiple epiphyseal
Pseudoachondroplasia
dysplasia (MED) (OMIM 6009691 are two distinct phenotypes
thai are grouped together becausethey result from mutations of
the gene encoding COMP. The mutations are heterozygous in
both; they are autosomal dominant traits. The clinical phenotypes
are restrictedto skeletaltissues.

Figure 693-5. Femalepatient with metaphysealdysplasia,type Schmid' The

normal and statureis mildly reduced.Mild tibia vara is presenr'
f"ii..
".e

2876r PARTXXXI r gengandJointDisorders

Figurc (193-6.Radiograph of lower extremities in Schmid metaphysealdysplasia

showing short tubular bones and metaphysealflaring and irregularities,abnormal
capital femoral epiphyses,and femoral necks.The epiphysesare normal. Coxa vara is
present.

Figure 693-7. A, Pseudoachondroplasia

in an adolescentmale. The faciesand head circumference are normal' There is shorteningof all extremitiesand bowing of the lower exrremlles.
B, Photographof hands, demonstratingshort stubby fingers.

Receptorsr 2877
Ghapter6!14r DisordersInvolvinglransmembrane

Figure 693-8. A, Lateral thoracolumbar spine radiograph of patient with pseudoachondroplasiashowing central protrusion (tonguing) of the anterior aspect of
upper lumbar and lower thoracic vertebrae. Note reduced vertebral body heights (platyspondyly) and secondary lordosis. B, Lower extremity radiograph of
patient with pseudoachondroplasiashowing large metaphyses,poorly formed epiphyses,and marked bowing of the long bones.

hips and knees is the major complication in adults with MED.

Adult heights range from 1.36 to 151 cm.
There are families with clinical and radiographic manifestations of MED that are not due to mutations of COMP. Some are
linked to the gene encoding one of the type IX collagen chains.
It has been suggestedthat COMP and type IX collagen inreract
functionally in cartilage matrix, thus explaining why mutations
of different genes produce similar pictures. Mutations of the
genescoding for another cartilage matrix protein, matrilin 3, and
the diastrophic dysplasia sulfate transporter have also been found
in patients with MED. For familial casesof pseudoachondroplasia and MED resulting from mutation in COMP, prenatal diagnosis is available.

Boerkoel CF, O'Neill S, Andre JL, et al: Manifestations and treatment of

Schimke immuno-osseous dysplasia: 14 new casesand a review of the literature. Eur J Pediatr 2000;759:l-7.
Briggs MD, Mortier GR, Cole WG, et al: Diverse mutations in the gene
for cartilage oligomeric matrix protein in a pseudoachondroplasia-multiple
epiphysealdysplasia diseasespectrum. Am J Hum Genet 1998;62:31,13t9.
Horton !7A, Hecht JT Chondrodysplasias: Disorders of cartilage matrix
proteins. In Royce PM, Steinmann B (editors): Connectiue Tissue and Its
Disorders, Molecular, Genetic and Medical Aspects,2nd ed. New York,
Wiley-Liss, 2002, p 909.
KennedyJ, JacksonG, RamsdenS, et al: COMP mutation screeningas an aid
for the clinical diagnosis and counseling of patients with a suspecteddiagnosis of pseudoachondroplasiaor multiple epiphysealdysplasia.Eur J Hum
G enet 2005:1,3:547-S 55.

Disorders involving transmembrane receptors result from heterozygous mutations of genes encoding FGFR3 (fibroblast
growth factor receptor 3) and PTHR (parathyroid hormone
receptor). The mutations cause the receptors to become activated
in the absenceof physiologic ligands, which accentuatesnormal
receptor function of negatively regulating bone growth. The
mutations act by gain of negative function. In the FGFR3 mutation group, in which the clinical phenotypes range from severe to
mild, the severity appears to correlate with the extent to which
the receptor is activated. Both PTHR and especially FGFR3
mutations tend to recur in unrelated individuals.

GROUP
ACHONDROPTASIA
of
group represents
a substantialpercentage
The achondroplasia
and containsthanatophoricdyspatientswith chondrodysplasias
with an
plasia(TD), the most common lethal chondrodysplasia
the most common
incidenceof 1/35,000births; achondroplasia,
with an incidenceof 1/15,000 to
nonlethal chondrodysplasia
All three have muta!140,000births; and hypochondroplasia.
tions in a small number of locations in the FGFR3 gene.There
is a strong correlation betweenthe mutation site and the clinical
phenotype.
TD (OMIM L87500, OMIM
DYSPLASIA.
THANAT0PHoRIC
187610)presentsbeforeor at birth. In the former situation, ultrasonographicexamination in midgestationor later revealsa large
head and very short limbs; the pregnancyis often accompanied

2878r PARTXXXI r BoneandJointDisorders

I irLrr,' i.') i I Stillborn intant with thanatophoric dvsplasia [-irnbs are ver,v
short, wrth upper linrbs excending onlr rrvo rhirds oi thc rvay dorvn the
abdomen. The chesris narrorv, exaggerlring the protuberirnceof the abdomen
The head is relatrvelr larce

by polyhydramnios and premature delivery. Very short limbs,

short neck, long narrow thorax, and large head with midfacial
hypoplasiadominate the clinical phenotypeat birth (F|g. 69a-11.
The cloverleaf skull deformity known as kleeblattschAdelis sometimes found. Newborns have severerespiratory distress because
of their small thorax. Although this distress can be treated by
intense respiratory care, the long-term prognosis is poor.
Skeletal radiographs distinguish two slightly different forms
called TD I and TD II. In the more common TD I, radiographs
show large calvariaewith a small cranial base,marked thinning
and flattening of vertebral bodies visualizedbest on lateral view,
very short ribs, severehvpoplasiaof pelvic bones,and very short
and bowed tubular bones with flared metaphyses(Fig. 694-2).
The femurs are curved and shaped like a telephone receiver.TD
II differs mainly in that there are longer and straighter femurs.
The TD II clinical phenotype is associatedwith mutations that
map to codon 650 of FGFR3, causingthe substitution of a glutamic acid for the lysine.This activatesthe tyrosine kinase activity of a receptorthat transmits signalsto intracellularpathways.
Muration of lysine 650 to methionine is associatedwith a clinical phenotype intermediate between TD and achondroplasia
referred to as severeachondroplasiawith developmentaldelay
and acanthosisnigricans or SADDAN. Mutations of the TD I
phenotype map mainly to two regions in the extracellular domain
of the receptor, where they substitute cysteine residues for other
amino acids.Free cysteineresiduesare thought to form disulfide
bonds promoting dimerization of receptor molecules, leading to
a c t i v a t i o na n d s i g n a lt r a n s m i s s i o n .
TD I and TD II represent new mutations to normal parents.
The recurrencerisk is low. Becausethe mutated codons in TD are
mutable for unknown reasonsand becauseof the theoretical risk
of.germ cell mosaicism, parents are offered prenatal diagnosis for
suosequentpregnancles.
ACH0NDH0PLASIA.
Achondroplasia (OMIM 100800) is the prorotype chondrodysplasia. It typically presents at birth with short
limbs, a long narrow trunk, and a large head with midfacial
hypoplasiaand prominent forehead(Fig.69a3\. The limb shortening is greatest in the proximal segments,and the fingers often

i;iguic (--9{2. A, Neonatal radiograph of a child with thanatophoric dysplasia.Note medial acetabular spws (black arrow), hypoplastic iliac bones,bowed
femora with rounded protrusion of proxinral femurs, hypoplasticthorax, and wafcr-thin vertebral bodies.B, Lateral radiograph of the thoracolumbar spine in
thanatophoricdysplasia,showing marked vertebralflatteningand short ribs Ossilicationdefectof the central portion of the vertebral bodiesis present.

ReceptorsI 2879
lnvolvingTransmembrane
694 r Disorders
Chapter
Bowing of the legs is common and may need to be corrected
surgically. Other common problems include dental crowding,
articulation difficulties, obesitS and frequent episodes of otitis
media, which may contribute to hearing loss.
Genetics"All patients with typical achondroplasia have mutations at FGFRS codon 380. The mutation maps to the transmembrane domain of the receptor and is thought to stabilize
receptor dimers that enhance receptor signals, the consequences
of which inhibit linear bone growth. Achondroplasia behaves as
an autosomal dominant trait; most casesarise from a new mutation to normal parents.
Becauseof the high frequency of achondroplasia among dwarfing conditions, it is relatively common for adults with achondroplasia to marry. Such couples have a 50"h risk of transmitting
their condition, heterozygous achondroplasia, to each offspring,
as well as a 25o/" risk of homozygous achondroplasia. The latter
condition exhibits intermediate severity between thanatophoric
dysplasia and heterozygous achondroplasia and is usually lethal
in the newborn period. Prenatal diagnosis is available and has
been used to diagnosis homozygous achondroplasia.

F'igure
694-.3.Infantwith achondroplasia.
Thecraniumis largeandthe foreheadprominent.The nasalbridgeis moderately
flat, and the chestis small
comparedwith the abdomen.
Note medialarm and forearmcreases,
which
reflectbowingat thesharpest
concavityof the limbs.

display a trident configuration. Most joints are hyperextensible,

but extension is restricted at the elbow. A thoracolumbar eibbus
is often found. Usually, birth length is slightly less than riormal
but occasionally plots within the low-normal range.
Diagnosis.Skeletalradiographs confirm the diagnosis (Fig.6944). The calvarial bones are large, whereas the cranial base and
facial bones are small. The vertebral pedicles are short throughout the spine as noted on a lateral radiograph. The interpedicular distance, which normally increases from the 1st to the 5th
lumbar vertebra, decreasesin achondroplasia. The iliac bones are
short and round, and the acetabular roofs are flat. The tubular
bones are short with mildly irregular and flared metaphyses.The
fibula is disproportionately long compared with the tibia.
Clinical Manifestations.Infants usually exhibit delayed motor
milestones, frequently not walking alone until 18-24 mo. This is
due to hypotonia and mechanical difficulty balancing the large
head on a normal-sized trunk and short extremities. Intelligence
is normal unless central nervous system complications develop.
As the child begins to walk, the gibbus usually gives way to an
exaggerated lumbar lordosrs.
Infants and children with achondroplasia progressively fall
below normal standards for length and height. They can be
plotted against standards established for achondroplasia. Adult
heights typically range between 118 and 145 cm for males and
between 712 and 1.35cm for females. Surgical limb lengthening
and human growth hormone treatment have been used to
increase height; both are controversial.
Virtually all infants and children with achondroplasiahave large
heads,although only a fraction have true hydrocephalus.Head circumference should be carefully monitored using standards developed for achondroplasia, as should neurologic function in general.
The spinal canal is stenotic, and spinal cord compression may
occur at the foramen magnum and in the lumbar spine. The former
usually presentsin infants and small children; it may be associated
with hypotonia, failure to thrive, quadriparesis, central and
obstructive apnea, and sudden death. Surgical correction may be
required for severestenosis.Lumbar spinal stenosisusually does
not present until early adulthood. Symptoms include paresthesias,
numbness,and claudication in the legs.Loss of bladder and bowel
control mav be late comolications.

145000)
HYP0CtI0NDB0PLASIA.Hypochondroplasia (OMIM
resemblesachondroplasia but is milder. UsuallS it is not apparent until childhood, when mild short stature affecting the limbs
becomesevident. Children have a stocky build and slight frontal
bossing of the head. Radiographic changes are mild and consistent with the mild achondroplastic phenotype. Complications are
rare; some patients are never diagnosed.Adult heights range from
tI5 to 1.46 cm. An FGFR3 mutation at codon 540 has been
found in many patients with hypochondroplasia. Genetic heterogeneity exists in hypochondroplasia, and other genetic loci are
exoected to be identified.

Figure694-4. Radiographof infant with achondroplasia,demonstratinginterpedicularnarrowing of the 1st through 5th lumbar vertebrae,short round iliac
bones, and flat acetabular roofs, The tubular bones are short and show mild
irregularities of the metaphyses.

2880r PART)O(XlI BoneandJointDisorders

JANSENMETAPHYSEAT
DYSPTASIA
(OMIM 156400\is a rare,
metaphyseal
chondrodysplasia
Jansen
dominantly inherited chondrodysplasia characterized by severe
shortening of limbs associatedwith an unusual facial appearance.
Sometimes it is accompanied by clubfoot and hypercalcemia. At
birth, a diagnosis can be made from these clinical findings and
radiographs that show short tubular bones with characteristic
metaphyseal abnormalities that include flaring, irregular mineralization, fragmentation,and widening of the physealspace.The
epiphysesare normal.
The joints become enlarged and limited in mobility with age.
Flexion contractures develop at the knees and hips, producing a
bent-over posture. Intelligence is normal, although there may be
hearing loss.
Jansen metaphysealchondrodysplasiais caused by activating
mutations of PTHR1. This G protein-coupled transmembrane
receptor servesas a receptor for both PTH and PTHTP.Signaling
through this receptor servesas a brake on the terminal differentiation of cartilagecellsat a critical step in bone growrh. Because
the mutations activare che receptor, they enhance the braking
effect and thereby slow bone growth. Loss of function mutarions
of PTHRl are observedin Blomstrand chondrodysplasia,whose
clinical featuresare the mirror image of Jansenmeraphysealchondrodysplasia.

are recessivetraits requiring the presenceof two mutant alleles.

The phenotype is determined by the combination of mutant
aileles; some alleles are present in more than one disorder.
OIASTBOPF||C
0YSPLASIA{OMIM 226{n). This well-ch aracterized
disorder is recognized at birth by the presence of very short
extremities, clubfoot, and short hands with proximal displacement of the thumb producing a hitchhiker appearance (Fig. 5951). The hands are usually deviated in an ulnar direction. Bony
fusion of the metacarpophalangeal joints (symphalangism) is
common, as is restricted movement of many joints, including
hips, knees, and elbows. The external ears frequently become
inflamed soon after birth. The inflammation resolves sDontaneously but leavesthe ears fibrotic and contracted ("cauliflbwer"
ear deformity). Many newborns have a cleft palate.
Radiographs reveal short and broad tubular bones with flared
metaphysesand flat, irregular epiphyses (Fig. 695-2).
The capital femoral epiphysesare hypoplastic, and the femoral
heads are broad. The ulnae and fibulae are disorooortionatelv
short. Carpal centersmay be developmentallyadvanced;the first
metacarpal is typically ovoid, and the metatarsals are twisted
medially. There may be vertebral abnormalities, including clefts

AmericanAcadem,v
of Pediatrics
Committee
on Genetics:
Healthsupervision
for childrenwith achondroplasia
Pediatrics
1.99
5;95:443457
Ho NC, GuarnieriM, BrantLJ,et al: Livingwirh achondroplasia:
Qualityof
life evaluationfollowing cervico-medullary
decompression.
Am J Med
Genet2004:1,31,,1,
63-167
Horron WA, LunstrumGP:Fibroblast
growthfactorreceptor3 mutationsin
achondroplasia
and relatedformsof dwarfismReuEndocrMetabDisord
2002;3:38
1-385.
HunterAG, BankierA, RogersJG, et al: Medicalcomplications
of achondroplasia:
A multicentre
patientreview.J Med Genet1,998;35:705-71,2
PauliRM, Horton VK, GlinskiLP,er al: Prospective
assessmenr
of risksfor
cervicomedullary-junction
compression
in infantswith achondroplas\a.
Am
J Hum Cenet1995;55:732-744.
Schipani
E, LangmanCB,ParfitrAM, et al: Constirutively
activared
receptors
for parathyroidhormoneand pararhyroidhormone-related
peptidein
metaphyseal
chondrodysplasia.
N EnglI Med 1996i335:708-774.
Jansen's

In order of decreasingseverity,the disorders involving ion transporters include achondrogenesistype 1B, atelosteogenesistype II,
and diastrophic dysplasia. They result from the functional loss of
the sulfate ion transporrer called diasrrophic dysplasia sulfate
transporter (DTDST), which is also referred to as SLC25A2
(solute carrier family 26, member 2). This prorein rransporrs
sulfate ions into cells and is important for carrilage cells that add
sulfate moieties to newly synthesizedproteoglycans destined for
cartilage extracellular matrix. Matrix proteoglycans are responsible for many of the properties of cartilage that allow ir to serve
as a templare for skeletal development. The clinical manifestations result from defective sulfation of cartilage proteoglycans.
A number of mutant alleles have been found for the DTDST
gene; they variably disturb transporter function. The disorders

Figurc 69-5-1.Child with diasrrophicdysplasia.The extremiriesare dramatically shortened (topl. Clubfoot is commonly observed(middle left). The fingers
are short, especiallythe index finger;the thumb characteristicallyis proximally
placed and has a hitchhiker appearance(middle right). The upper helix of the
ears becomesswollen 3-4 wk postnatally (lower left), and this inflammation
spontaneously resolves,leaving a cauliflower deformity ol the ptnnae (lower
right).

Ghapter 696 r Disorders Involving Transcription Factorc I 2881

Rossi A, Superti-FurgaA: Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review,
associated skeletal phenotypes, and diagnostic relevance. Hum Mutat
2001,;17:759-1.71..

Figure695-2.Radiograph
of handsin diastrophic
dysplasia.
Themetacarpals
andphalanges
areirregularandshort.The firstmetacarpal
is ovoid.

of cervical vertebral lamina and narrowing of the interpedicular

distancesin the lumbar soine.
Complications are primarily orthopedic and tend to be severe
and progressive. The clubfoot deformity in the newborn resists
usual treatments, and multiple corrective surgeriesare common.
Scoliosis typically develops during early childhood. It often
requires multiple surgical procedures to control and sometimes
compromises respiratory function in older children. Despite the
orthopedic problems, patients typically have a normal life span
and reach adult heights in the 105-130 cm range, depending on
the severity of scoliosis. Growth curves are available for diasrrophic dysplasia.
Some patients are mildly affected and exhibit slight short
stature and joint contractures, no clubfoot or cleft palate, and
correspondingly mild radiographic changes.The mild phenotype
tends to recur within families. The recurrence risk of this autosomal recessivecondition ts 25%". Ultrasonographic examination
can be employed for prenatal diagnosis, but if DTDST mutations
can be identified in the patients or parents, molecular genetic
diagnosis is possible.

There are three disorders involving transcription factors that

result in bone dysplasias. One, campomelic dysplasia, is historically considered a chondrodysplasia. The other two' cleidocranial dysplasia and nail-patella syndrome, have been regarded as
dysostoses,or abnormalities of single bones. The mutant genes
that encode these transcription factors are SOX9, CBFAL
(RUNX2), and LMXIB, respectively, and are members of much
larger gene families. For instance,SOX9 is a member of the SOX
family of genes related to the SRY (sex-determining region of the
Y chromosome) gene; CBFAL (RUNX2) belongs to the runt
family of transcription factor genes, and LMXIB is one of the
LIM homeodomain gene family. All three disorders are due to
haploinsufficiency of the respective gene products; the disorders
are dominant traits. For familial casesof cleidocranial dysplasia
and nail-patella syndrome, prenatal diagnosis is possible if the
mutations are identified. Campomelic dysplasia results from new
mutational events and has a low risk of recurrence in subsequent
pregnancles.
CAMP0MELICDYSPLASIA.Apparent in newborn infants, cam-

ACHONDBOGENESIS
WPE 1B (OMIM 600972}
AND ATETOSTEOGEN.
ESIS TYPE ll (0MlM 256050).Both of the conditions are rare
ographs confirm the bowing and often show hypoplasia of the
recessive lethal chondrodysplasias. The most serious is
scapulae and pelvic bones (Fig. 696-t). Affected infants usually
achondrogenesistype 18, which demonstrates a severe lack of
skeletal development usually detected in utero or after a miscarriage. The limbs are extremely short, and the head is soft. Skeletal radiographs show poor to missing ossification of skull bones,
vertebral bodies, fibulas, and ankle bones. The pelvis is hypoplastic, and the ribs are short. The femurs are short and exhibit a
trapezoid shape with irregular metaphyses.
Infants with atelosteogenesistype II are stillborn or die soon
after birth; prematurity is common. They exhibit very short
limbs, especially the proximal segments. Clubfoot and dislocations of the elbows and knees may be detected. Hypoplasia of
vertebral bodies, especially in the cervical and lumbar spine, is
found on radiographs. The femora and humeri are hypoplastic
and display a club-shaped appearance. The distal limb bones,
including the ulna and fibula, are poorly ossified.
Both disorders carry a 25"/o recurence risk and are potentially
detectable in utero by mutation analysis if the mutant alleles are
identified in the parents. Prenatal diagnosis should be possible
with fetal ultrasonography.

Hall BD: Diastrophic dysplasia:Extreme variability within a sibship. Az /

Med Genet 1996;63:28-33.
Makitie O, Kaitila I: Growth in diastrophic dysplasia. J Pediatr
1.997:130:64L-646.
Newbury-Ecob R: Atelosteogenesis
type 2. J Med Genet 1998;35:49-53.

Figure 696-1. Radiograph of lower extremitiesof a child with campomelic

dysplasia. Note bowed femurs, which are not particularly wide as compared
with the thick bowed tibiae and fibulae.

2E82r p131 pgll r BoneandJoint Disorders

Meyer J, SudbeckP, Hetd M, et al: Mutational analysisof the SOX9 gene in
camptomelicdysplasiaand autosomalsex reversal:Lack of genotype/phenotype correlations.Hum MoL Genet 1997;6:91-98.
Mundlos S, Otto R Mundlos C, et al: Mutations involving the transcription
factor CBFA1 causecleidocranialdysplasia.Cell 1,997;89:773-779.

Bone dysplasias may display increased bone density; mosr are

rare. Osteopetrosis,which has many subtypes, and pyknodysostosis, and probably others in this category of bone dysplasias,
result from defective bone resorotion.

OSTEOPETROSIS

Figure696-2.Cleidocranial
dysplasiademonstrating
approximarion
of the
girdle in rhe midline.Note prominenthigh foreheadand hyper:fi:i*

die of respiratory distress in the neonatal period. Complications

in children and adolescentswho survive include short stature with
progressivekyphoscoliosis, recurrent apnea and respiratory infections, and learning difficulties.
CLEID0CRANIAL
DYSPLASIA.Cleidocranial dysplasia (OMIM
114290) is recognized in infants becauseof drooping shoulders,
open fontanelles, prominent forehead, mild short stature, and
dental abnormalities (Fig. 696-2). Radiographs reveal hypoplastic or absent clavicles, delayed ossification of the cranial bones
with multiple ossificarion centers (wormian bones), and delayed
ossification of pelvic bones. The course is usually uncomplicated
except for dislocations, especially of the shoulders, and dental
anomalies(numerousteerh)rhar require therapy.
NA|I-PATELIA SYNDBOME.Dysplasia of the nails, absence or
hypoplasia of the patella, abnormalities of the elbow, and spurs
or "horns" extending from the iliac bones characterize the nailpatella syndrome (OMIM 119600), which is also called osteoonychodysostosis. Some patients have nephritis that resembles
chronic glomerulonephritis. There is a wide spectrum of severity;
some patients present in early childhood, whereas others are
asymptomaticas adults.

Dryer SD, Zhou G, Baldini A, et al: Mutations in LMX|B causeabnormal

skeletalpatterning and renal dysplasiain nail patella syndrome.Nat Genet
1,998;19:47-50.
Mansour S, Offiah AC, McDowall S, et al: The phenorype of survivors o{
camptomelicdysplasia.J Med Genet 2002;39:597-602.

Two main forms of osteopetrosishave been delineated: a severe,

autosomal recessiveform (OMIM 2597001 and a mild, autosomal dominant form (OMIM t66600). Disturbances of osteoclasr
function due to mutations in a gene encoding an osteoclastspecific subunit of the vacuolar proton pump (TCIRGI) are
found in most patients with the recessiveform. Mutations of the
gene encoding the chloride channel protein, CLCN7, are
observed in the dominant form of osteoperrosis.Both types o{
mutations lead to disturbancesof acidification needed for normal
osteoclast function.
The severeform is usually detectedin infancy or earlier because
of macrocephaly, hepatosplenomegaly,deafness, blindness, and
severe anemia. Radiographs reveal diffuse bone sclerosis. Later
films show the characteristic bone within a bone appearance.
.With
time, infants typically fail to thrive and show psychomotor
delay and worsening of cranial neuroparhies and anemia. Dental
problems, osteomyelitis of the mandible, and pathologic fractures
are common. The most severely affected patients die during
infancy; less severely affected individuals rarely survive beyond
the 2nd decade.Those who survive beyond infancy usually have
learning disorders but may have normal intelligence despite
hearing and visual loss.
CilNICAL MANIFESTATIONS.
Most of the manifestarions are due
to failure to remodel growing bones. This leads to narrowing of
cranial nerve foramina and encroachment on marrow sDaces.
which results in secondary complications, such as optic and facial
nerve dysfunction, and anemia accompanied by compensatory
extramedullary hematopoiesis in the liver and spieen.
The autosomal dominant form of osteopetrosis (AlbersSchdnberg disease,osteopetrosistarda, or marble bone disease)
usually presents during childhood or adolescencewith fractures
and mild anemia and, less frequently, as cranial nerve dysfunction, dental abnormalities, or osteomyelitis of the mandible.
Skeletal radiographs reveal a generalizedincreasein bone density
and clubbing of metaphyses (Fig. 697-t). Alternating bands of
lucent and dense bands produce a sandwich appearance to vertebral bodies. The radiographic changes are sometimes incidental findings in otherwise asymptomatic adolescentsand adults.
TBEATMENT.Some patients with severe osteopetrosis have
responded to bone marrow transplantation. Calcitriol and inter-

or UnknownI 288i1
for WhichDefectsAre PoorlyUnderstood
Chapter
698 r Disorders
a lysosomaldisease
Gelb BD, Shi GP, Chapman HA, et al: Pycnodysostosis,
caused by cathepsin K deficiency.Science 1996;273:1236-7238
GerritsenEJ,VossenJM, FasthA, et al: Bone marrow transplantationfor autosomal recessiveosteopetrosis:A report from the Working Party on Inborn
Errors of the European Bone Marrow Transplantation Group I Pediatr
1,994;1,25:896-902.
Totar J, Teitelbaum SL, Orchard PJ: Osteopetrosis,mechanismsof disease
review. N Engl I Med 2004;351:2839-2849.

There are many chondrodysplasias,or chondrodysplasia clinical

phenotypes, for which the genetic cause or basic mechanism is
poorly understood or not known. Many illustrate features not
iound in other disorders and have historical significance in the
evolution of chondrodysplasia nomenclature and classification.

Figure(i97-l Lateralradiograph
showingbone-in-bone
appearance
that is
eharactcrirtir
of osre,,petrtrsi:.

SYNDR0ME.The Ellis-van Creveld syndrome

ELLIS-VANCBEVELO
(OMIM 225500), also known as chondroectodermal dysplasia,
is a skeletal and an ectodermal dysplasia. The skeletal dysplasia
presentsat birth with short limbs, especiallythe middle and distal
ieg-ents, accompanied by postaxial polydactyly of the hands and
sometimes of the feet. Nail dysplasia and dental anomalies
(including neonatal, absent, and premature loss of teeth and
upper lip defects) constitute the ectodermal dysplasia. Common
manifestations also include atrial septum defects and other con-

feron-yhave also been used with some benefit. Symptomatic care,

such as dental care, transfusions for anemia, and antibiotic treatment of infections, is important for patients who survive infancy.

PYKNODYSOSTOSIS
An autosomalrecessivebone dysplasia,pyknodysostosis(OMIM
265800) presentsin early childhood as short limbs, characteristic facies, an open anterior fontanelle, a large skull with frontal
and occipital bossing,and dental abnormalities.The hands and
feet are short and broad, and the nails may be dysplastic. The
scleraemay be blue. Minimal trauma often leads to fractures.
Treatment is symptomatic and focused mainly on the management of dental problems and fractures. The prognosis is generally good, and patients typically reach heights of 130-150 cm.
Skeletal radiographs show a generalized increase in bone
density. In contrast to many disorders in this group, the metaphyses are normal. Other changes include wide sutures and
wormian bones in the skull, a small mandible, and hypoplasia of
the distal phalanges.
Several mutations have been found in the gene encoding
cathepsin K, a cysteineprotease that is highly expressedin osteoclasts. The mutations predict ioss of enzyme function, suggesting
that there is an inability of osteoclasts to degrade bone matrix
and remodel bones.

Charles JM, Key LL: Developmentalspectrum of children with congenital

osteopetrosis.
J Pediatr 7998;732:371,-374.

above the medial aspect of the acetabulum.

Ellis-van Creveld syndrome is an autosomal recessivetrait that
occurs most often in the Amish. Mutations have been identified
in one of two genes,EVC and EVC2, which map very close to
one another on chromosome 4p. The functions of the gene products are unknown. About 30% of patients die of cardiac or respiratory problems during infancy. Life span is otherwise normal;
adult heights range from 109 to t52 cm.
Asphyxiating thoracic dysTH0SACICDYSTB0PHY.
ASPHYXIATING
trophy (OMIM 208500), or Jeune syndrome' is an autosomal
recessivechondrodysplasia that resemblesEllis-van Creveld syndrome. Newborn infants present with a long' narrow thorax and
respiratory insufficiency associatedwith pulmonary hypoplasia.
Nebnates often die. Other neonatal manifestations include
slightly short limbs and postaxial polydactyly. The condition has
been mapped to chromosome 15q13, but the identity of the locus
is not known.
Skeletal radiographs show very short ribs with anterior expansion. Tubular limb bones are short with bulbous ends;
cone-shapedepiphysesoccur in hand bones. The iliac bones are
short and square with a spur above the medial aspect of the
acetabulum.
If infants survive the neonatal period, respiratory function
usually improves as the rib cage grows. Surgery that produces
lateral thoracic expansion improves rib growth and enhances
chest wall dimensions. Progressiverenal dysfunction frequently

2884r PARTXXXI I BoneandJointDisorders

complications from smallpox and polio vaccinations), malabsorption, celiac disease,and Hirschsprung disease.Adults are at
risk of malignancn especiallyskin tumors and lymphoma. Adults
reach heights of t07-I57 cm.
CHH shows autosomal recessiveinheritance. Although rare,
its highest prevaienceis in the Amish and Finnish populations. It
results from mutations of a gene coding for a large untranslated
RNA component of an enzyme complex involved in processing
mitochondrial RNA (RMRP). Loss of this gene product may
interfere with processing of 5.8S ribosomal RNA, disturbing
protein translation and control of mitosis. Although RMRP
mutations are usually associated with typical CHH, they have
occasionally been detected in patients with milder clinical phenotypes lacking the extraskeletal features characteristic of CHH.
Prenatal diagnosis is available if the mutation is identified either
in the patient or parents.

Figure(rc)S-1.
Radiograph
of lowerextremities
in Ellis-van
Creveldsyndrome.
Tubularbonesareshort,andproximal6bulais short.Ossification
is retarded
in lateraltibia epiphyses,
causinga knock-knee
deformiry.

METATR0PICDYSPLASIA,There are at leasr two forms of meratropic dysplasia(OMIM 155530, 250600), an autosomal dominant and an autosomal recessive form. Regardless of type,
newborn infants present with a long narrow trunk and short
extremities. A tail-like appendage sometimes extends from the
base of the spine. Odontoid hypoplasia is common and may be
associatedwith cervical instability. Kyphoscoliosis appears in late
infancy and progressesthrough childhood, often becoming severe
enough to compromise cardiopulmonary function. The joints are
large and become progressively restricted in mobilitn except in
the hands. Contractures often develop in the hips and knees
during childhood. Although severelyaffecredinfanrs may die at
a young age from respiratory failure, patients usually survive,
although they may become disabled as adults from the progressive musculoskeletal deformities. Adult heights range from 110
to 120 cm.
Skeletalradiographs show characteristicchangesdominated by
severeplatyspondyly and short tubular bones with expanded and

develops during childhood. Inresrinal malabsorption and hepatic

dysfunction have also been reporred
SH0RT-RlBP0LYDACTYLY
SYNDB0MES.Four rvoes of short-rib
polydactyly syndrome (types I-IV) (OMIM 223530, 263520,
26351,0, 269860) have been described. All are lethal in the
newborn period. Neonates present with respiratory disrress, an
extremely small thorax, very short exrremiries, polydactyln and
a variety of nonskeletal defects. Radiographs demonsrrate very
short ribs and tubular bones with changescharacteristic for each
type. All four types are autosomal recessivetraits.
CARTILAGE-HAIR
HYPOPLASIA.
Cartilage-hairhypoplasia (CHH)
(OMIM 250250) is also known as metaphysealchondrodysplasia-McKusick type. It is recognized during ihe 2nd year because
of growth deficiency affecting the limbs, accompanied by flaring
of the lower rib cage, a prominent srernum, and bowing of the
legs. The hands and feet are short, and the fingers are very
short with extreme ligamentous laxity. The hair is thin, sparse,
and light colored, and nails are hypoplastic. The skin is
hypopigmented.
Radiographs show short tubular bones with flared, irregularly
mineralized, and cupped metaphyses (Fig. 698-2\. The knees are
more affected than are the hips, and the fibula is disproportionately longer than the ribia. The meracarpals and phalanges are
short and broad. Spinal radiographs reveal mild platyspondyly.
Nonskeletal manifestations associated with CHH include
immune deficiency (T-cell abnormalities, neutropenia, leukopenia, and susceptibility to chickenpox; children also may have

figure 69fi-2. Radiograph of Iower extremitiesin cartilage-hairhypoplasia.

The tubular bonesare short and the metaphysesare flared and irregular.The
fibula is disproportionarelylong comparedwith the tibia. The femoral necks
are short.

or UnknownI 2885
for WhichDefectsAre PootlyUnderstood
Ghapter
698r Disorders

I t g , u r c r . ' ) S i.. A . R a d i o g r a p h o f t h e
l a r e r arl h o r a c o l u m b as rp i n ei n m e t a t r o p i c
dysplasia showing severe platyspondyly.
B , R a d i o g r a p ho f l o w e r e x t r e m i t i e si n
metatropic dysplasia showing short
tubular bones with widened metaphyses.
The femurs have a dumbbell appearance.

deformed metaphyses that exhibit a dumbbell appearance (F'ig.

698-3). The pelvic bones are hypoplastic and exhibit a halberd
appearancebecauseof a small sacrosciaticnotch and a notch
above the lateral margin of the acetabulum.
SP0NDYL0MfTAPHYSEAL
nYSPLASIA-K0ZL0WSKITYP[. The
Kozlowski type of spondylometaphyseal dysplasia (OMIM
784252) presents in early childhood with mild short stature
involving mostly the trunk and a waddling gait. The hands and
feet may be short and stubby. Radiographs show flattening of vertebral bodies.The metaphysesof tubular bones are widened and
irregularly mineralized, especially at the proximal femur. The
pelvic bones manrfestmild hypoplasia.
Scoliosismay develop during adolescence.The disorder is otherwise uncomplicated, and manifestations are limited to the skeieton. Adults reach heightsof 130-150 cm. The Koziowski type of
spondylometaphysealdysplasiais an autosomal dominant trait.
Mutations of genes encoding filamin A and filamin B proteins
have been detectedin diversedisordersof skeletaldevelooment:
filamin A mutations in otopalatodigital syndromes type f and 2
frontometaphyseal dysplasia and Melnick-Needles syndrome
(OMIM 311300, 3041.20,305620,309350);and filamin B mutations in Larsen syndrome and perinatal lethal ateosteogenesis
types I and III (OMIM 150250, 108720,108721\. Filamins functionally connect extracellularto intracellularstructural proteins,
thereby linking cells to their local microenvironment, which is
essentialfor skeletal development and growth.
JUVENILE
0STE0CH0N0R0S[S"
The juvenile osteochondroses
are
a heterogeneous group of disorders in which regional disturbances in bone growth cause noninflammatory arthropathies.
They are summarizedin Table 698-1. Some have localizedpain
and tenderness (Freiberg disease, Osgood-Schlatter disease,
osteochondritisdissecans),whereas others presentwith painless
limitation of joint movement (Legg-Calv6-Perthesdisease,
Scheuermanndisease).Bone growth may be disrupted,leading to
deformities. The diagnosis is usually confirmed radiographically,
and treatment is symptomatic. The pathogenesisof these disor-

ders is believed to involve ischemic necrosis of primary and secondary ossification centers. Although familial forms have been
reported, these disorders usually occur sporadically.
This is a
CSfiTIAAt}lYPtn0STCISlS'
eArF[Y ill$EA$E {I|\|FANTILE
rare disorder of unknown etiology characterized by cortical
hvoerostosis with inflammation of the contiguous fascia and
-urcle. It is often sporadic, bur both autoso;al dominant and
autosomal recessive inheritance have been reported. In three
unrelated families with autosomal dominant inheritance, a
linkage to mutations of the COL1A1 gene (codesfor the c'1chain
of type I collagen)has been reported.
Prenatal and more often postnatal onset have been described.
Prenatal onset may be mild (autosomal dominant) or severe
(autosomal recessive).Severeprenatal diseaseis characterized by
typical bone lesions, polyhydramnios, hydrops fetalis' severerespiratory distress, prematurity, and high mortality. Onset in
infancy (<6 mo, average 10 wk) is most common; manifestations
include the sudden onset of irritability, swelling of contiguous soft
tissue that precedes the cortical thickening of the underlying
bones, fever, and anorexia. The swelling is painful with a woodlike induration but with minimal warmth or redness; suppuration is absent. There are unpredictable remissions and relapses;
an eoisode mav last 2 wk to 3 mo. The most common bones

IPONYM

fi[GION
AFF[{TiD

drsease
Legg-Calvd-Perthes
disease
0sgood-5chlatter
dtsease
5ever
Frelberg
dlsease
disease
5cheuermann
Blount
di5ease
dis5ecans
0$eochondritls

femoral
eplphysis
Caprtal
Ilbial
tubeKle
0scalcaneus
metata6al
Head
ofsecond
Vertebral
bodies
tibialepiphysis
Medral
aspert
ofproximal
hip,
elbow,
regrons
ofknee,
5ubchondrai
a n da n k l e

A6N
ATFfiT5[}ItrAII{iN
3-1)yl
yr
10-16
6-10yr
yr
10-14
Adolescence
Infancy
oradolescence
Adolescen(e

2886I PART)fiXl I 36n. andJointDisorders

Figurc 698-{. Faciesin infantile cortical hyperostosis.In almost all cases,the changeshave appearedbeforethe 5th month of life. Unilateral swelling of the left
cheek and left side of the jaw in an infant 12 wk of age. (From Kuhn JP,SlovisTL, Haller JO: Caffey'sPediatricDiagnosticlmaging, 1Othed., vol. 2, philadelphia, Mosby, 200a, p 2363.)

involved include the mandible (75%l (Fig. 698-4), the clavicle,

and the ulnar. If swelling is not prominent or visible, the diagnosis may not be evident.
Laboratory features include elevatederyrhrocyte sedimentation

ostosis such as chronic vitamin A intoxication, prolonged

prostaglandin E infusion in children with ductal dependent congenital heart disease,primary bone tumors, and scurvy.
Complications are unusual but include pseudoparalysis with
limb or scapula involvement, pleural effusions (rib), torticollis
(clavicle), mandibular asymmetry, bone fusion (ribs or ulnaradius), and bone angulation deformities (common with severe
prenatal onset).
Treatment includes indomethacin and prednisone if there is a
poor responseto indomethacin.

Ghapter699 I osteogenesislmperfecta! 2887

Figure 698-5. Residualbony bridgesbetweeneachradius and ulna in infantile cortical hyperostosis.A, Massivecortical thickeningsof the radii and ulnas ar 4%
m o o f a g e . P r e s s u r e f r o m t h e e x t e r n a l t h i c k e n i n g s h a s f o r c e d t h e r a d i a l h e a d s l a t e r at dh oe ue tl o
b fo w s . B ,A t l / / 2 m o , 9 m o a f t e r o n s e t , a l l a f f e c t e d b o n e s a r e
still greatly swollen, owing largely to expansionof the medullary cavities,although there are still residuesof the earlier cortical thickening.The radial headsare
still dislocated,and the radial diaphysesare now anchoredin this ectopicposition by solid bony bridgesbetweenthem and the ulnar diaphyses,a singlebridge
on the right and three on the left. Ar 32 mo, thesebridgeswere still intact, although they had diminishedslightly in caliber.It is possiblethat thesebony bridges
represent ossification of parts of the interosseousmembrane. (From Kuhn JP, Slovis TL, Haller JO: Caffey's Pediatric Diagnostic Imaging, 10th ed., vol. 2,
Philadelphia,Mosby, 2004, p 2365.1

Beck M, Roubicek M, RogersJG, et al: Hererogeneityof metatropic dysplasia. Eur J Pediatr 1.983;140:2!1.-237
da Silva EO, Janovitz D, de Albuquerque SC: Ellis-van Creveld syndrome:
Report of 15 cases in an inbred kindred. J Med Genet L980;L7:349.J) tr.

Davis JT, Long FR, Adler BH, et al: Lateral thoracic expansionfor Jeunesyndrome: Evidenceof rib healing and new bone formation. Ann Thorac Surg

2004;77:445448.
GlorieuxFH: Caffey disease:
An unlikelycollagenopathy.
J Clin Inuest
2005 11.1.
5:1.1.
42-1.144.
Hall CM, ElciogluNH: Metatropicdysplasia
lethalvariants.Pediatr Radiol
2004:34:66-74.
Krakow D, Robertson SP,King LM, et al: Mutations in the gene encoding
filamin B disrupt vertebral segmentation,joint formation and skeletogenesis. Nat Genet 2004;36:40541,0.
Makitie O, SulisaloT, de la ChapelleA, et al: Cartilage-hairhypoplasia./ Med
Genet 7995;32:3943.
Restrepo S, SanchezAM, PalaciosE: Infantile cortical hyperostosisof the
mandible. Ear Nose Throat J 2004;83:454455.
Ridanpaa M, van EenennaamH, Pelin K, et al: Mutations in the RNA component of RNase MRP cause a pleiotropic human disease,cartilage-hair
hypoplasia.Cell 2001;104:795-203.
Ruiz-PerezVL, Ide SE, Strom TM, et al: Mutations in a new genein Ellis-van
Creveld syndrome and Weyers acrodental dysostosis. Nat Genet
2000;24:283-286.
SchweigerS, Chaoui R, TennstedtC, et al: Antenatal onset of cortical hyperostosis (Caffey disease):Case report and review. Am I Med Genet
2003;1204:547-552.
SharrardIWJW:Abnormalities of the epiphysesand limb inequality.In Sharrard WJW (editor): Paediatric Orthopaedics and Fracture,3rd ed. Oxford,
'1.993.
Blackwell Scienti6cPublications.
o 71.9.

Osteoporosis, a feature of both inherited and acquired disorders,

classically demonstratesfragility of the skeletal system and a susceptibility to fractures of the long bones or vertebral compressions from mild or inconsequential trauma. Osteogenesis
imperfecta (OI) (brittle bone disease),the most common genetic
cause of osteoporosis, is a generalized disorder of connective
tissue. The spectrum of OI is extremely broad, ranging from a
form that is lethal in the perinatal period to a mild form in which
the diagnosis may be equivocal in an adult.
ET|OL0GY.Structural or quantitative defects in type I collagen
cause the full clinical spectrum of OL Type I collagen is the
primary component of the extracellular matrix of bone and skin.
Ten percent of casesclinically indistinguishable from OI do not
have a molecular defect in type I collagen. Some of these cases
have biochemically normal collagen and probably represent
genetic heterogeneity. Other cases have overmodified collagen
and severe/lethalOl-like bone dysplasia. These casesare caused
by recessive null mutations in a collagen modifying enzyme)
prolyl 3-hydroxylase 1 (coded by the LEPRE1 gene on chromosome 1p34.1) or its associatedprotein, CRTAP.
OI is an autosomal dominant disorder that occurs
EPIDEMI0LOGY.
in all racial and ethnic groups. The incidence of OI that is

2888r PARTXXXI r BoneandJointDisorders

detectable in infancy is about 1120,000. There is a similar incidence of the mild form OI type I.
PATH0I0GY.The collagen structural mutations cause OI bone to
be globally abnormal. The bone matrix contains abnormal type
I collagen fibrils and relatively increasedlevels of types III and V
collagen. In addition, several noncollagenous proteins of bone
matrix are also reduced. The hydroxyapatite crystals deposited
on this matrix are poorly aligned with the long axis of fibrils.
PATH0GENESIS.
Type I collagen is a heterotrimer, composed of
two ct1(I) chains and one cr2(I) chain. The chains are synrhesized
as procollagen molecules with short globular extensions on both
ends of the central helical domain. The helical domain is composed of uninterrupted repeats of the sequenceGly-X-Y, where
Gly is glycine, X is often proline, and Y is often hydroxyproline.
The presence of glycine at every 3rd residue is crucial to helix
formation becauseits small side chain can be accommodated in
the spatial constraints of the interior of the helical trimer. The
chains are assembledinto helices using crucial alignment sites in
the carboxyl-terminal extension. Helix formation then proceeds
linearly in a carboxyl to amino direction. Concomitant with helix
assembly and formation, the chains are glycosylated at lysine
resloues.
The collagen structural defectsare predominantly of two types:
80"h are point mutations causing substitutions of helical glycine
residues or crucial residues in the C-propeptide by other amino
acids, and 20Y" are single exon splicing defects. The clinically
mild OI type I has a quantirarive defect with null mutations in
one u1(I) allele.Theseparienrsmake a reducedamount of normal
collagen.
The glycine substitutions in the two a chains have distinct
genotype-phenotyperelationships. One third of mutations in the
q,1 chain are lethal, especially substitutions with charged or
branched side chains thar disrupt helix stability. Two uniformly
lethal regions in the carboxyl third of cr1(I) align with major
ligand binding regions of the collagen helix. Glycine substitutions
in a2(I) are predominantly nonlerhal. Lethal mutarions occur in
eight regularly spaced regions along the chain that align with
binding regions for matrix proteoglycans at the level of the higher
order matrix structure of collagen, the fibril.
Classical OI is an aurosomal dominant disorder. Some familial
recurrencesof OI are caused by parental mosaicism for dominant
collagen mutations. A small p.ri..rt"g. of Ol-like casesare recessive defects in the complex of proreins responsible for prolyl 3hydroxylation of type I collagen.
CLINICAL
MANIFESTATI0NS.
OI has the triad of fragile bones,blue
sclerae, and early deafness. OI was once divided into "congenita," the forms detectable at birth, and "tarda," the forms
detectable later in childhood; this did nor account for the variability of OI. The Sillenceclassification divides OI into four tvDes
based on clinical and radiographic criteria. Additional ryp.r hiu.
been proposed based on histologic distinctions.
his form is sufficiently
ees. Many type I famiin childhood, and preand IV are divided into
A and B subtypes, depending on the absence(A) or presence(B)
of dentinogenesis imperfecta. Other possible connecrive rissue
abnormalities include easy bruising, joint laxitn and mild short
stature compared with family members. Fractures result from

may be stillborn or die in the 1st yr of life. Birthweight and length

are small for gestational age. There is extreme fragility of the
skeleton and other connecrive tissues. There aie multiole
intrauterine fractures of long bones, which have a crumpled
appearance on radiographs. There are striking micromelia and

Figure699-1.Infantwith typeIII osteogenesis

imperfecta
displaysshortened
bowedextremities,thoracicdeformity,and relativemacrocephaly.

bowing of extremities; the legs are held abducted at right angles

to the body in the "frog-leg position." Multiple rib fractures
create a beaded appearance and the small thorax contributes to
respiratory insufficiency. The skull is large for body size with
enlarged anterior and posterior fontanelles. Sclerae are dark
blue-gray.
0steogenesislmperfectaTypelll (ProgressiveDeforming).This is
the most severe nonlethal form of OI and results in significant
physical disability. Birthweight and length are often low normal.
Fractures usually occur in utero. There is relative macrocephaly
and triangular facies (Frg. 699-ll. PostnatallS fracrures occur
from inconsequential trauma and heal with deformity. Disorganization of the bone matrix results in a "popcorn" appearanceat
the metaphyses(Fig. 699-2). The rib cage has flaring at the base,
and pectal deformity is frequent. Virtually all type III patients
have scoliosis and vertebral compression. Growth falls below the
curve by the 1st year; all type III patients have extreme short
stature. Scleral hue ranges from white to blue.
0steogenesis lmperfecta Type lV (Moderately Severe). Patients
with OI type IV may present at birth with in urero fractures or
bowing of lower long bones. They may also present with recurrent fractures after ambulation. Most children have moderate
bowing even with infrequent fractures. Children with OI type IV
require orthopedic and rehabilitation intervention, but they are
usually able to attain community ambulation skills. Fracture rates
decrease after puberty. Radiographically, they are osreoporotic
and have metaphyseal flaring and vertebral compressrons.
Patients with type IV have moderate short stature. Scleral hue
may be blue or white.

Ghapter699 I 0steogenesislmperfectar 2889

Figve 699-2. Typical features of type III osteogenesisimperfecta radiographs

in a 6yr old child. A, Lower long bonesare osteoporotic,with metaphyseal
flaring, "popcorn" formation at growth plates, and placement of
intramedullaryrods, B, Vertical bodiesare compressedand osteoporotic.

Osteogenesislmperfecta Type V (Hyperplastic Callusl, Type Vl

(Mineralization Defect),and TypeVll (AutosomalHecessive).There
has been a proposal to distinguish as distinct types small groups
of patients who clinically have OI type IV, but have distinct findings on bone biopsy. They constitute about 5"/, of OI populations and have negative collagen mutation screening. Type V
patients also have hyperplastic callus, calcification of the
interosseous membrane of the forearm, and a radiodense metaphyseal band. Type VII maps to chromosome 3p22-24 and is a
hypomorphic defect of CRTAP.

There is no cure for OI. For severe nonlethal OI,

TREATMENT.
active physical rehabilitation in the early years allows children to
attain a higher functional level than does orthopedic management
alone. Children with OI type I and some with type IV are spontaneous ambulators. Children with type III and severe type IV
benefit from long-leg plastic braces, gait aids, and a program of
swimming and conditioning. Severely affected individuals require
a wheelchair for community mobility but can acquire transfer and
self-care skills. Teens with OI may require psychologic supPort
with body image issues.
Orthopedic management of OI is aimed at fracture management and correction of deformity to enable function. Fractures
should be promptly splinted or cast; OI fractures heal well, and
cast removal should be aimed at minimizing immobilization
osteoporosis. Correction of deformity of the long bones requires
osieotomy procedure and placement of an intramedullary rod.
"n Treatments with calcium or fluoride supplements or calcitonin
do not improve OI. Growth hormone improves bone histology
in growth-responsive children (usually types I and IV). A short
course of treatment of children with OI with bisphosphonates(IV
pamidronate or oral olpadronate) confers some benefits' Bisphoiphonates decreasebone resorption by osteoclasts;OI patients
will have increased bone volume that still contains the defective

osteotomy is increased.There is no effect of bisphosphonateson

mobility scores, muscle strength, or bone pain. Limiting fieatment duration to 2-3 yr in mid-childhood may maximize benefits and minimize detriment to cortical material properties.
Benefits appear to persist several years after the treatment interval. Side effects include abnormal long bone remodeling,
osteonecrosis of the law, and osteopetrotic-like brittleness to
bone.

IAB0RAT0BY FINDINGS.The diagnosis is confirmed by collagen

biochemical studies or sequencingof cDNA using fibroblasts cultured from a skin punch biopsS or by direct sequencingof DNA
from leukocytes. Mutations in the amino third of the collagen
chains are not detectable by the biochemical tests becausethey
do not cause significant overmodification of chains. In OI type I,
the reduced amount of type I collagen results in an increase in
the type III: type I collagen ratio detected by protein electrophoresis. Identification of point mutations by sequencingfacilitates family screening and prenatal detection.
SevereOI can be detected prenatally by level II ultrasonography as early as 16 wk of gestation. OI and thanatophoric dysplasia may be confused. Fetal ultrasonography may not detect OI
type IV and rarely detects OI type I. For recurrent cases,chorionic villus biopsy can be used for biochemical or molecular
studies. Amniocytes produce false-positive biochemical studies
but can be used for molecular studies in appropriate cases.
In the neonatal period, the normal to elevated alkaline phosphataselevelspresent in OI distinguish it from hypophosphatasia.
COMPI|CAT|ONS.The morbidity and mortality of OI are cardiopulmonary. Recurrent pneumonias and declining pulmonary
function occur in childhood, and cor pulmonale is seenin adults.
Neurologic complications include basilar invagination, brainstem compression, hydrocephalus, and syringohydromyelia.
Most children with OI types III and IV have basilar invagination,
but brainstem compression is infrequent. Basilar invagination is
best detected with spiral CT of the craniocervical junction

(Frs.699-3).

Figtre 699-3. Typical feature of basilar invagination shown in the sagittal

MRI of an asymptomatic child with rype III osteogenesisimperfecta. There is
invagination of the odontoid above the Chamberlain line causing compression
and kinking at the pontomedullary junction (arrou).

2890I PARTXXXI r BoneandJoint Disorders

chronic condition that limits both life span
Infants with OI type II usually die within
life. An occasional child with radiographic
growth deficiency may survive to the teen
years. Personswith OI type III have a reduced life span with clusters of mortality from pulmonary causesin early childhood, the
teen years, and the 40s. OI types I and IV are compatible with a
full life soan.
Individuals with OI rype III are usually wheelchair dependent.
With aggressiverehabilitation, rhey may atrain transfer skills and
household ambulation. OI type IV children usually attain community ambulation skills eirher independently or with gait aids.

severethan that of the parent.

The recurrence risk to an apparently unaffected couple of
having a second child wirh OI is empirically noted to be 5-7"/":
this is the srarisricalchance that one parint has a germ lini
mosaicism. The collagen mutation in the unaffected parent is
present in some germ cells and may be present in somatic tissues.
If genetic testing reveals that a parent is a mosaic carrier, the risk
of recurrence may be as high as 50%.

AntoniazziF, BertoldoF, Mottes M, et al: Growth hormone treatmentin osteogenesisimperfectawith quantitative defect of type I collagen synthesis.
J
Pediatr 1996;129:4324 39.
Barnes AM, Chang \7, Morello R, et al: Deficiencyof cartilage-associated
protein in recessivelethal osteogenesisimperfecta. N Engl J Med 2006;
355:2757-2764.
Cabral WA, Chang !7, BarnesAM, et al: Prolyl 3-hydroxylase1 deficiency
causesa recessivemetabolic bone disorder resemblinelethaVsevere
osteogenesisimperfec:.'. Nat Genet 2007J9:359-365.
Glorieux FH, Rauch F, Plotkin H, et al: Type V osteogenesis
imperfecta:A
new form of brittle bone disease.J Bone Miner Res 2000;15:1550-1558.
Glorieux FH, Rauch F, Ward LM, et al: Alendronatein the treatmentof pediatric osteogenesis
imperfecta.J Bone Miner Res 2004;19(Suppl1):S12.
Glorieux FH, ri7ard LM, Rauch F, et al: Osteogenesisimperfecta type VI: A
form of brittle bone diseasewith a mineralizationdefect./ Bone Miner Res
2002:77:30-38.
Letocha A, Cintas HL, TroendleJF, et al: Controlled trial of pamidronatein
children with types III and IV osteogenesisimperfecta confirms vertebral
gains but nor short-rerm functional improvement. J Bone Miner Res
2005:20:977-986.
Marini JC: Should children wirh osteogenesis
imperfectabe treated with bisphosphonates?Nat Clin Prac Endo (y Metab 2006;2:14-15.
Marini JC, Hopkins E, Glorieux FH, et al: Positive linear growth and bone
responsesto growth hormone treatment in children with rypesIII and IV
osteogenesis
imperfecta.J Bone Miner Res 2003:1,8:237-243.
Plotkin H, Rauch F, Bishop NJ: Pamidronatetreatmenrof severeosteogenesis
imperfecta in children under 3 years of age. J Clin Endocrinol Metab
2 0 0 0 ; 8 5 : 18 4 5 - 18 5 0 .
Sakkers R, Kok D, Engelbert R, et al: Skeletal effects and functional outcome
with olpadronate in children with osteogenesisimperfecta: A 2-year randomized placebo-controlled study. Lancet 2004;363:1427-1431.

Marfan syndrome is an autosomal dominantly inherited disorder

with nearly complete penetrance but variable expressivity. The

incidence of this disorder is about 1 per 5,000-10,000 births;

nearly 30%" of affected newborns represent sporadically occurring new mutations. Diagnosis of Marfan syndrome is based on
clinical findings, some of which are age and maturation dependent.
PATH0GENESIS.
Pathogenesisis related to abnormal biosynthesis
of fibrillin-1, a 350-kD extracellular protein that is the major constituent of microfibrils that provide the scaffolding network of
elastin and have an anchoring function in nonelastic tissue such
as aortic adventitae and the suspensoryligament of the eye. The
fibrillin-l (FBNI) locus resides within the long arm of chromosome 15 (15q21). The gene is composed of 65 exons, and to date,
>500 mutations distributed throughout FBN1 have been
described,each appearing to be unique to a given family. The relatively even distribution of mutations throughout FBNI likely
contributes to the phenotypic variability of the disorder.
However, phenotype-genotype correlations are not always
obvious and there is significant intrafamily variability suggesting
that epigenetic, modifier gene, or environmental factors influence
the expressionof the disease.Mutations associatedwith the more
severe neonatal variant of Marfan syndrome are clustered at
exons 26-27 and 3t-32. Mutations in exons 59-65 may be associated with milder diseasein 40o/o of patients who also do not
manifest aortic pathology.
Fibrillin regulation of transforming growth factor-B may also
play a role in the spectrum of the manifestations of Marfan
syndrome. Indeed patients with heterozygous mutarions of the
transforming growth factor-B receptor have Marfanlike
manifestations with a normal fibrillin gene. The resulting syndrome (Loeys-Dietz aneurysm syndrome) has many features of
Marfan syndrome plus wide spaced eyes, cleft uvula, and more
aggressivevascular diseaseincluding tortuous arteries, as well as
aortic rupture at smaller aortic sizes than seen in Marfan
syndrome.

may suggest developmental delays, but cognitive performance is

normal for family.
Neonatal (infantile, congenital) Marfan syndrome is more
severethan casesobserved in older children and may have clinical similarity to congenital contractural arachnodactyly, presenting with hypotonia, arachnodactyly, loint laxity and dislocations,
and flexion contractures. The face is long and the skin is lax with
diminished recoil. The ears may appear large and pliant. Ocular
examination may disclose megalocornea, iridodonesis, or frank
lens dislocation. Cardiac examination often reveals murmurs of
either mitral valve prolapse (MVP) with regurgitarion or aortic
insufficiencg and aortic root dilatation may be documented
echocardiographically.
Older individuals display tall stature and a long, thin face with
narrowness of the maxilla and dental crowding (Fig. 700-I).
Ocular abnormalities reflect rhe connective tisiue d-efect and
include blue sclerae, myopia occurring h 50% of affected individuals, and suspensory ligament laxity with iridodonesis.
Slit-lamp examination as early as infancy may disclose lens dislocation, which may be congenital. Iridodonesis is a helpful clinical sign, but suspectedcasesof Marfan syndrome should have
ophthalmologic evaluations that include slit-lamp examinations
even in the absence of gross ocular abnormality, as myopia,
increased intraocular pressure, or retinal detachment may be
present.
Examination of the musculoskeletal system discloses
dolichostenomelia (long, thin limbs), and the
.putr substan"i-

700 r MarfanSyndromer 2891

Chapter

wirhoutassistance,
"Thumbsign":whenthehandis clenched
l-igurc7()()-2.
theentirerhumbnailproiectsbeyondthe borderof thehand.(FromZitelliBJ:
Pictnrcof the month.Arch PediatrAdolescMed 2005;1'59:721-723.1

-011-I
flJrrrr
Nlarfan syndrome. Note the elongated facies, droopv licls,
apparent dolichosrenomelia, and mild scoliosis

tiall.vexceedsthe height (>1.05 times height).The lower segment

(distancefrom pubis ro heel) is increasedin comparison to the
upper segment(height minus lower segment)and contributes to
a diminished upper segment:lower segmentratio (U./L.). Hand
findings are nonspecific and include long, thin fingers (arachnodactyly) that are hyperextensible.
The thumb may be adducted
across the narrow palm (Steinbergsign) and may appreciably
overlap the 5th finger when encirclingthe wrist (wrist sign) (Figs.
700-2 and 700-3).
Long gracile ribs may contribute to various sternal anomalies
including pectusexcavatum("funnel chest") or pectuscarinatum
The risk of scoliosis among adolescentsis
l.5l;:;:;;.0*"st").
The connectivetissLredefect conrributesto increaseddistensibility of lung parenchyma and dura and increasesthe risks of
spontaneouspneumothorax and dural ectasia,respectively.
Progressivecardiovascular defectscontribute to the substantial
morbidity of Marfan syndrome, and echocardiography has
improved early detectionof patients at risk of cardiac complications. Progressiveaortic root dilatation, whether or not accompanied by auscultatory evidence of aortic disease,occurs in
80-100% of affectedindividuals and may be congenital.
In contrast to adults, frank aortic regurgitationis lesscommon
in children, perhaps becausethe amount and duration of distension required to cause aortic dysfunction do not manifest until
later life. MVP occurs as frequently as aortic dilatation and also
tends to be progressive, in contrast to rhe more static lesion of
idiopathic MVP. MVP is the most common cause of morbidity in
children with Marfan syndrome and may manifest as arrhythmias, heart failure, thromboemboli, or endocarditis.Mitral valve
regurgitation is observed in about 50% of affected patients
younger than 20 yr of age.
0lAGflifiSl$.Diagnosis of Marfan syndrome is based on clinical
criteria (Table 700-1). In general,diagnosisof a sporadic or new
mutation caserequiresthar major manifestationsof the disorder

nation is indicated in all suspectedcases.It is important to note

that only 60-70% of patients who meet clinical criteria for
Marfan syndrome have known mutations in the fibrillin.gene,
whereas 12"h of patients not meeting criteria have a fibrillin
mLltanon.
The differential diagnosis includes homocystinuria, LoeysDietz syndrome, familial aortic dissection, familial ectopia lentis,
:rnd MASS (mvopia, mitral valve prolapse,mild aortic dilation'
skin striae, skeletal features like Marfan syndrome) syndrome.
MASS is caused by a different mutation of the fibrillin gene.

'":: rr

Fieure 70()-3 "sfrist sign": when the wrist is graspedby the contralateral
hand, the thumb overLapsthe termtnal phalanx of the 5th digit. (From Zitelli
BJ: Picture of the monrh Arch Pediatr Adolesc Med 2005 ;159 :721'-723.\

2892r PARTXXXI r BoneandJointDisorders

Indexcase
hrdiovosrulor
systen
. lfthefamilylgenetkiri$oryhnot(0ntributory,majorcriteriaintwoormoredifferentorgansystemsand
(eitha
Major
rriteria
ofthefollowing)
. Dilatationoftheas(endingaorta,with0rwith0uta0rtl(regurgftation,andinvolvingatleas
involvement
ofathirdorgan
system
'lfamutationknowntocausefularfansyndromein0the6isidentifred,onemajorcriterioninanorgan
Valsalva
. Disse(ion
sy$em
andinvol\/ement
ofasecond
organ
system
ofthea5cending
aorta
Minor
criteria
Relative
of anindexrasewhoindependently
meetsthesestrictdiagnostir
criteria
. P r e s e n c e o f a m a j o r c r i t e r i o n i n t h e f a m i l y h i s t o r y , o n e m a j o r c f i t e r i o n i n a n o r g. aMitral
prolapse
regurgitation
n s yvalve
stem
, a n dwith
i n vor
o lwithout
v e m emitral
n t valve
. Dilatation0flhemainpulmonaryartery,intheabsenceofvalvularorperipheralpulm
ofasecond
organ
system
younger
other
0bvious
cause,
thanage40years
0rgansystems
' [alcification
youngerthan
ofthemitral
annulus
age40yean
Skelaol
. Dilatation
younger
ordissection
ofthedescending
thoracic
orabdominal
aorta
thanage50years
(onstitutes
(iterion
Atleast
f0ur0fthef0llowing
amajor
intheskeletal
system
Forinvolvement
ofthecardiovascular
system,
onlyoneoftheminor
criteria
mustbeprcsent
. Pectus
(arinatum
. Pectus
Pulnonory
systen
excavatum,
needing
surqery
. Reduced
Major
dteria
upper-segment
tolower-segment
ratio
0rarmspan
t0hetght
ratio
>l 05
. None
. Wrist
andthumb
signs
. Scoliosis
Minor
criteria
of>20"orspondylolisthesis
. 5pontaneous
' Reduced
pneumothorax
extension
attheelbows
{<170')
. Apical
. Medial
blebs
displacementof
themedial
pesplanus
malleolus,causinq
' Protrusio
Forinvolvement
ofthepulmonary
system,
onlyone0fthemin0tcriteria
mustbepresent
(ascertarned
acetabulae
ofany
degree
onradiographs)
l\4inor
criteria
Skinondintegunent
' Pertus
exravatum
ofmoderate
sevetity
Major
criteria
. Joint
. None
hypermobility
. Highly
palate
arched
withcrowding
0fteerh
Minor
criteria
' Facial
(dolichocephaly,
appearance
malar
hyp0plara,
retrognathia,
(stretch
en0phthalm0s,
palpebral ' 5triae
d0wn-slanting
atrophicae
gain,
pregnancy,0r
marktwith0ut
marked
weight
repetitive
stfess
' Recunent
fissures)
orinrisional
herniae
Forinvolvement
oftheskeletal
system,
atleasttwofeatures
contributing
t0maj0rcriteria,0r
onefeature
from
Forinvolvement
0ftheskin
andintegument,only
oneoftheminor
criteria
must
bepresent
theljst(0ntributing
t0themajor
rriterion
andtwoofthemin0r
oiteria
mu(bepresent
Dura
Atuhrsysten
Major
rriterlon
(fitenon
. Lumbosacral
MaJor
dural
ectasia
. ktopia
lentis
(riteria
Minor
. None
Minor
criteria
' Abnormaliy
flatcornea
tonilyIgenet
ichistory
. Inoeased
axial
length
ofglobe
(any0ne0fthefollowing)
Major
criteria
. Hypoplastlc
. Having
irisorhypoplastic
ciliary
muscle,causing
deaeased
miosis
(riteria
a parent,
child,
orsibling
whomeeb
these
diagnostic
independently
Forinvolvement
' Presence
oftheo(ular
system,at
least
two0ftheminor
criteria
must
bepresent
ofamutation
inFBiVl,which
isknown
tocause
Marfan
syndrome
. PresenceofaMplotypearoundFB,V/,inheritedbydescent,knowntobeassociatedwithu
diagnosed
Marfan
syndrome
inthefamlly
Minor
flteria
. None
j965-19i6
From
Judge
DqDietz
Ht;[4arfans
syndrome
lanret2005;j66:

Other conditions rhat should be excluded include Stickler syndrome, idiopathic MVP syndrome, congenital contractural
arachnodactylysyndrome, isolaredcystic medial necrosisof the
aorra (Erdheim syndrome),and Shprintzen-Goldberg(craniosynostosisarachnodactyly)syndrome.

mutation is known or in an individual for whom strict adherence

on preventionof complicationsand
f the potential complexity of manfected individuals, periodic referral
with experience with Marfan synThe pediatrician should work in concert with pediatric subspecialiststo coordinate a rational approach to expecranr monrtoring and treatment of potential complications. yearly
evaluations for such potential problems as cardiac valvular

disease, scoliosis, or ophthalmologic problems are imperarive.

Physical therapy may improve neuromuscular tone in infancy.
Moderate nontraumatic aerobic physical activity such as swimming or bicycling should be encouraged as tolerated. Maximal
exertion should be discouraged because of the stresses that
increased cardiac output place on the aorta. Endocarditis prophylaxis should be instituted before dental or other invasiveiurgical procedures. B-Adrenergic blockade with agents such as
propanolol or atenolol may slow the progression of aortic dilatation and may lessen the risks of catastrophic cardiac events.
Losartan, an angiotensin II type 1 receptor blocker and TGF-p
agonist, is being introduced as an additional agent that may be
effective for the management of aortic disease.Acute aortic dissection may be managed by composite graft.
Optimal managemenr of the pregnant adolescentwith Marfan
syndrome has not been established.The risk that pregnancy will
worsen cardiovascular abnormalities is of concern. Although substantial data are lacking, young women with minor cardiac manifestations or mild aortic root dilatation may tolerate pregnancy
and experience good maternal and fetal outcomes. Those with
frank aortic dilatation should be monirored echocardiographically at regular intervals. Although B-adrenergicblockade has not
been shown to be teratogenic, the prenatally exposed offspring
of women with Marfan syndrome who have been treated with
B-antagonists should be monitored in the neonatal period for
such drug-induced problems as hypotension, bradycirdia, and
hypoglycemia.

Chapter 701 I Bone Structure, Growth. and Hormonal Regulation r 28113

PR0GNOSIS.
Longeviry in Marfan syndrome is diminished in comparison with population norms, primarily because of the
increased risk of cardiovascular complications. Dilatation of the
aortic root and ascending aorta is progressive and may lead to
aneurysm formation and increasedrisk of aortic dissection.These
and other concerns pose not only medical problems, but also psychologic stressesfor the affected child and the parents, particularly during adolescence.Awareness of these issues and referral
for support servicesmay facilitate a positive perspectivetoward
this condition.
The heritable nature of Marfan syndrome
GENETICC0UNSELING.
makes recurrence risk (genetic) counseling mandatory. Approxi
mately 1.5-30% of casesare the first affected individuals in their
families. Fathers of these sporadic caseshave been, on average,
7-L0 yr older than fathers in the general population. This paternal age effect suggeststhat these casesrepresent new dominant
mutations with minimal recurrence risks to the future offspring
of the normal parents. A few cases of gonadal mosaicism in a
phenotypically normal parent require recurrence risk counseling
by a professionally trained and experienced genetic counselor.
Each child of an affected individual, however, has a 50% risk of
inheriting the number 15 chromosome with the Marfan mutation
and thus being affected. Recurrencerisk counseling is best accomplished by professionals with expertise in the issuessurrounding
this chronic debilitating disorder.

American Academy of Pediatrics Committee on Genetics:Health supervision

of children with Marfan syndrome. Pediatrics 1'996;98:978-982.
Boileau C, JondeauG, Babron M-C, et al: Autosomal dominant Marfan-like
connective-tissuedisorder with aortic dilation and skeletal anomalies not
linked to the fibrillin genes.Am I Hum Genet 7993;53:46-54.

Collod G, Babron M-C, Jondeau G, et al: A second locus for Marfan syndrome maps to chromosome3p24.2-p25. Nat Genet 1'994;8:264-268'
DePaepeA, Devereux RB, Dietz HC, et al: Revised criteria for Marfan syndrome.Am J Med Genet 1.996;62;41'7426.
Franke U, Furthmayr H: Marfan's syndrome and other disorders of fibrillin'
N Engl J Med 1994;330:1'384-1385.
Gelb BD: Marfan's syndrome and related disorder-more tightly connected
than we thought. N Engl J Med 2006;355:841'-844.
Glesby MJ, Pyeritz RE: Association of mitral valve prolapse and systemic
abnormalities of connective tissue: A phenotypic continuum' /AMA
1989;262:523-528.
Gross DM, Robinson LK, Smith LT, et al: Severeperinatal Marfan syndrome'
Pediatri cs 1.989;84 :83-89.
Habashi JR Judge D, Holm TM, et al: Losartan, an ATI antagonist prevents
aortic aneurysm in a mouse model of Marfan syndrome. Science 2006;
312:1,17-121..
Judge DR Dietz HC: Marfan's syndrome' Lancet 2005;366:1965-1976'
Loeys BL, Chen J, Neptune ER, et al: A syndrome of altered cardiovascular,
craniofacial, neurocognitive and skeletal development caused by mutations
in TGFBRI or TGFBR2' Nat Genet 2005;37:275:281.
Palz M, Tiecke F, Booms P, et al: Clustering of mutation associatedwith mild
Marfan-like phenotypes in the 3' region of FBN1 suggestsa Potential genotype phenotype correlation. Am J Med Genet 2000;91:212-221'
P..eir" L, Levran O, Ramirez R et al: A molecular approach to stratification
of cardiovascular risk in families with Marfan syndrome. N Engl J Med
1.994;331,:148-153.
Rossiter JP, Morales AJ, Repke J! et al: A prospective longitudinal evaluation o1 pregnancy in the Marfan syndrome. Am J Obstet Gynecol
7995;173:1,599-1606.
ShoresJ, Berger KR, Murphy EA, Pyeritz RE: Progressionof aortic dilatation
and ihe benefit of long-term p-adrenergic blockade in Marfan's syndrome'
N Engl J Med 1994;330:7335-1'341
Tierney ESS,Feingold B, Printz BF, et al: Beta-blocker therapy does not alter
the iate of aortic root dilation in pediatric patients with Marfan syndrome'
I Pediatr 2007;l 50:77-82.

- Russell
W.Ghesney
BoneDisease
4 - Metabolic
Section

eled bone.
Also see Chapters 48 and 571'.
Bone is a dynamic organ capable of rapid turnover' weight
bearing, and withstanding the stressesof various physical activities. It is constantly being formed (modeling) and re-formed
(remodeling). It is the malor body reservoir for calcium, phosphorus, and magnesium. Disorders that affect this organ and the
processof mineralization are designatedmetabolic bone diseases.
Becausebone growth and turnover rates are high during childhood, many clinical features of metabolic bone diseasesare more
prominent in children than in adults.
The human skeleton consists of a protein matrix, largely composed of a collagen-containing protein, osteoid, on which is
deposited a crystalline mineral phase. Although collagencontaining osteoid accounts for 90"/" of bone protein, other proteins are present, including osteocalcin, which contains ycarboxyglutamic acid. Synthesisof osteocalcin is vitamin K and
vitamin D dependent; in high bone turnover states,serum osteocalcin values are often elevated.
The microfibrillar matrix of osteoid permits deposition of
highly organized calcium phosphate crystals' including hy-

2894I PARTXXXII BoneandJointDisorders

to rise. Hypophosphatemia blocks PTH secretion ano promores
renal 1,25-dihydroxyvitamin D (1,25[OH]rD) synthesis.This
latter compound also promotes greater intestinal phosphate
a DSOrpilon.
Rates of bone formation are coordinated with alterations in
mineral metabolism in both the intestine and kidneys. Inadequate
dietary intake or intestinalabsorption of calcium causesa fall in
serum levels of calcium and its lonized fraction. This servesas

I z-oCnyoioCnoteJterot
lsriny

,"gl

the availabiliryof 1,25(OH)2D ultimately dererminesthe fraction

o f i n g e s t e dc a l c i u m t h a t i s a b s o r b e d .
LiverDisease
Anticonvulsants
BiliaryDisease
bone density in healthy subiecrsand in children with metabolic
bone disease.DEXA scanningexposesthe patient to less radiation than a chest radiograph.
An understandingof the metabolismof vitamin D is necessary
to appreciatemetabolic bone diseaseand rickets (seeFig. 701-li.
The skin contains 7-dehydrocholesterol,which is converted to
vitamin D.1 by ultraviolet radiation; other inactive viramin D
sterols are also produced (see Chapter 48). Vitamin D3 is then
transported in the bloodstream to the liver by a vitamin
D-binding protein (DBP); DBP binds all forms of viiamin D. The
plasma concentration of free or nonbound vitamin D is much
lower than the level of DBP-bound vitamin D metabolites.
Vitamin D also can enter the metabolic pathway by ingestion
of dietary vitamin D2 (ergocalciferol)or viramin O, (iholicalclferol), both of which are absorbed from the intestinebecauseof

winter. High vitamin D intake raisesthe plasmalevelof 25(OH)D

to many times above normal, but the parent vitamin D compound
i t s e l fi s a h s o r h e db y a d i p o s et i s s u e .

METABOLITT
Vitamin
D2
Vrtamrn
D,
25(0H)D,
25(0H)D,
Total
2s(0H)D
24,25(0H),0
1,25(0H),0
Infancy
(hildhood
Adolescence
Adulthood

OH
10-Hydroxylase

Aluminum?? Lead??
RenalDisease
VitaminD-DependencyRickets
X-LinkedHypophosphatemic
Rickets

Figure 701-1. The metabolicpathway of vitamin D, indicating its conversion

to the hormone 1,25(OH)rDr and to 24,25(OH)2Dj. Vitamin D, (ergosrerol),
of plant origin, appearsto undergo similar metabolic steps.

PLASMA
VALUT
1-2 ng/mL
1-2 nq/ml
4-10ng/mL
12-40ngimL
15-50ng/mL
1-4 ng/ml
pg/mL
70-100
10-50pg/mL
40 80pgiml
20-35pg/mL

calcium or phosphate values return to normal.

24,25(OH)rD

(1-5 nglml)

Excessive

increase after ingestion of large

(Metaphyseal
Dysplasia)I 2895
702 r PrimaryChondrodystrophy
Chapter

TYPT

DTFECT
6ENE
CONffNTRATION
URINE
ATKALINI
SERUM
SERUM
GENETICS KNOWN
AODS
ACIIVITYOFAMINO
LEVEI, PHOSPHATASE
GLCIUM
LEVTI. PHOSPHORUS

withsecondary
hyperparathyroidism
[akium
defrciency
(deficiency
0ivitamir
D;low25(0fl)D
andnostimulati0n
0f
valus)
hiqher
1,25(0H):D
1 Lackofvitamin
D
tosunliqht
NOrL
a Laikofexposure
b Dietary
deficiency
ofvitamin
D
NorL
NorL
c [ongenitai
ofvrtamin
D
NOrL
2 Malabsorption
drsease
Norl
3 Hepatir
NorL
4 Antrconvuhive
drugs
NorL
osteodystrophy
5 Renal
L
D-dependent
typei
6 Vitamin
(nosecondary
phosphae
l1 Primary
defiriency
hyperparathyroidism)
N
1 Genetirpfimaryhypophosphatemia
syndrome
2 Fanconi
a [ystinosis
b Tyrosinosis
c Lowe
syndrome
d Acquired
a(idoss,type
ll proximai
3 Renal
tubular
4 0ncogenrchypophosphatemia
5 Phosphae
deficiency
ormalabsorption
N
hyperallmentation
a Parenteral
N
intake
b Lowphosphate
lll End-organ
resrstance
to1,25(0H):Dr
variants)
1 Vitarn
n D-dependent
typell (several
resembling
rrckets
lV Related
c0nditions
1 Hypophosphatasra
2 Metaphysealdysostosrs
E
type
a Jansen
N
b schmid
type

NorL

AR

XDAD

L
L
L
L
t
L

AR
AR
XR

E
E
E
E
E
E

L
L

N
N

LorN

eevated AR
Phosphoethanolamine

Y
I

AR

AD
AD

A,dur0.0mal,D,domr'ant;E.plevated;,,10w;\,'0,mar,R,reressve;!variable;I,X-li'\ed;YYr

amounts of vitamin D. Although h1'pervitaminosisD and production of inactive metabolitescan occur after oral dosing (see
Chapter 48), extensiveskin exposureto sunlight doesnor usuallv
produce toxic levelsof 25(OH)Dr, suggestingnatural regulation
of the oroduction of this metabolite in cutaneoustissue.
Serr-rm1,2.5(OH)1Dlevelsare higher in children than in adults,
are not as subject to seasonalvariabilitv, and peak in the lst vr
of hfe arid again during the adolescentgrowth spurt. Thesevalues
must be interpretedin light of the prevailingserumcalcium,phosphate, and PTH values and with regard to the entire vitamin D
metabolite profile.
Mineral deficienci,preventsthe normal processof bone mineral
deposition. If mineral deficiency occurs at the growth plate,
growth slows and bone age is retarded,a condition called rickers.
Poor mineralizationof trabecularbone resultingin a greaterproportion of unmineralizedosteoid is the condition of osteomalacia. Rickets is found only in growing children before fusion of
thc epiphvses,whereas osteomalaciais present at all ages. All
patientswith rickets have osteomalacia,but not all patientswirh
osteomalaciahave rickets. These conditions should not be confusedwith osteoporosis,a condition of equal lossof bone volume
and mineral (seeChapter 70-5).
Rickets rnay be classifiedas calcium-deficientor phosphatedeficientrickets. Becauseboth calcium and phosphateions constitnte borle mineral, the insuificiencyof either tvpe in the ECF
that bathesthe mineralizingsurfaceof bone resultsin rickets and
by their
osteomalacia.The two typesof ricketsare distrnguishable
clinical manifesrations(Table 701,-2).Rickets may also occur in
the face of rnineraldeficiencl despiteadequatevit:rmin D stores.
Trr-redietary calcium deficiency rickets is found in some parts of
Africa but re'rrelyin North America or F,urope.A form of phosphate-deficiencyrickets may occur in infants given prolonged

aluminum salts as a
administrarionsof phosphate-sequestering
reflux. This resultsin the
treatmenrfor colic or gastroesophageal
phosphatedepletion syndrome.

In this autosonraldominant condition, bowing of the legs,short

stature,and a waddling gait appear in the absenceof abnormalities of serum levels of calcium and phosphate, alkaline

stature.

2896I PARTXXXI r BoneandJoint Disorders

recessive disorder characterized by neutropenia, pancreatic

exocrine insufficiencn bone marrow dysfunction, and iometimes
severe hematologic complications (see Chaprer 448). Although
allogeneic bone marrow transplantation has been used as a therapeutic approach, there have been mixed results.
There are no other currently available forms o{ treatment
known to be effective for the chondrodystrophies or dysostosis.

Hypophosphatasia is an autosomal recessivedisorder that radiographically resemblesrickets and is defined by low serum alkaline phosphatase acrivity. It is an inborn error of metabolism in

mutations of the gene identifed to date are missensemurarrons.

although splice-site mutations, small deletions, and frame-shift
mutations have also have been found. The only phenotype associated with these mutarions is hypophospharasii. Some patients
may have a regulatory defect involving this enzyme rather than
a mutatron.
There is considerable heterogeneity in the severity of the
disease.Some casesappear at birth, and diagnosis has even been
made in utero by radiographic examination of a fetus. The disease

impaired pyridoxine metabolism. Although no satisfactory

therapy has been found, infusion of plasma rich in alkaline phosphatase activity has been helpful in healing bone in short-term
studies. Bone marrow transplantation has been successfulusing
donors with normal TNSALP values. The clinical course of thii
condition often improves spontaneously as an affected child
matures, although early death due to renal failure or flail chest
leading to pneumonia may occur in the severeinfantile form of
the disorder. Rare patients presenting with identical clinical and
radiographic patterns have normal serum alkaline phosphatase
activity. Their diseasehas been labeled pseudohypophosphatasia
and may represent the presenceof a mutant alkaline phosphatase
isoenzyme that reacts to artificial substrates in an alkaline environmenr (in a test tube) but not in vivo with natural substrates.

Excessive elevation of the bone isoenzyme of alkaline phosphatase in serum and significant growth failure characierize
hyperphosphatasia. Osteoid proliferation in the subperiosteal
portion of bone results in separation of the periosteum from the
bone cortex. Bowing and thickening of the diaphyses are
common, along with osteopenia.The diseaseusually has its onset
by 2-3 yr of age, when painful deformity developing in the
extremities leads to abnormal gait and somerimes fractures.
Other common findings include pectus carinatum, kyphoscoliosis, and rib fraying. The skull is large, and the cranium is thickened (widened diplo) and may be deformed. Skull involvement
can.lead to progressiveand profound hearing loss. Radiographically, the bony texture is variable; dense areas (showing a teaied
cotton-wool appearance)are interspersedwith radiolucent areas
and general demineralization. Long bones appear cylindrical, lose
metaphysealmodeling, and contain pseudocystsshowing a dense,
bony halo.
In this autosomal recessive disorder. serum levels of both

tinct from Paget diseasebecausehistology of bone reveals a lack

of normal cortical bone remodeling and an absenceof the classic
mosaic partern of lamellar bone found in the adult condition.
Unusual clinical manifestations include wormian bones in the

most other bone diseasesand hence may aid in the differential

diagnosis of hypophosphatasia. Seizures in patients with the
lethal and infantile forms of the disease miv be related to

A more serious autosomal dominant variant, expansile skeletal hyperplasia, is characterized, by early-onset deafness, premature loss of teeth, progressivehyperostotic widening of long bones

r 2897
705 I Osteoporosis
Ghapter
causing painful phalangesin the hands, episodichypercalcemia,
and enhancedbone remodeling.A defectin the genethat encodes
receptor activation of nuclear factor yB (NF-yB) is relevant. This
gene appearsto be necessaryfor osteogenesis,and the defect leads
to increased activity of NF-yB in the skeleton.

Osteoporosis is the most common bone disorder in adults, but it

is relatively uncommon in children. Bone volume is diminished
and the incidence of fractures is greatly increased in this condition. In contrast to osteomalacia,which shows undermineraliza'
tion and normal bone volume, histologic sectionsof bone in all
forms of osteoporosis reveal a normal degree of mineralization
but a reduction in the volume of bone, especiallytrabecular bone
(vertebral bone). In osteoporosis, by delinition, there is also a
reduced amount of bone tissue, (termed osteopenia) which is
associatedwith atraumatic (pathologic) fractures. Osteoporosis
in children may be primary or secondary (Table 705-1). The
primary osteoporosescan be divided into heritable disordersof
imperfecta,Bruck synconnectiverissue,including osteogenesis
drome, osteoporosis-pseudogliomasyndrome, Ehlers-Danlos
syndrome, Marfan syndrome, homocystinuria, and idiopathic
juvenile osteoporosis.Secondaryforms of osteoporosisinclude
various neuromusculardisorders,chronic illness,endocrine disorders, and drug-induced and inborn errors of metabolism,
including lysinuric protein intoleranceand Gaucher disease.
When no obvious primary or secondarycausecan be detected,
idiopathic juuenile osteoporosis should be considered, especially
if the following clinical features are evident: onset prior to
puberty,long bone and lower back pain, vertebralfractures,long
bone and metatarsal fractures, a washed-out appearance of the
spine and appendicularskeleton,and improvement after puberry.
Trabecular bones such as the spine and metatarsalsare particularly affected by atraumatic fractures.
In general, blood values of minerals, vitamin D metabolites,
alkaline phosphatase,and parathyroid hormone are normal.
Evaluation of bone mineral content and bone density by dualenergy x-ray absorptiometry or less often quantitative CT shows
markedly reduced values. Several modes of therapy (including
and calcioral calcium supplements,calcitriol, bisphosphonates,
tonin) have beenusedwith some successin individual conditions,
but the effect of these treatments is difficult to gauge because
spontaneous recovery may occur after rhe onset of puberty in
)/.)"/o

oI CdSeS.

Osteoporosis-pseudogliomais an autosomal recessivedisorder

manifested by variable age at onset, low bone mass, fractures in
childhood, and abnormal eyedevelopment,and the defectivegene
has been mapped to chromosome 11q12-13. The mutation is a
loss of function in the gene for low-density lipoprotein recepror-related protein 5. Interestingly, gain-of-function mutations
result in a gene product that increasesbone density.
The life cycle implications of either significant demineralization
or osteoDorosisin childhood need to be stressed.Eventsin childhood will influence peak bone mass, and late adolescenceis a
period of rapid bone mineral accretion. Moreover, while peak
botr. -ass is achievedby 20-35 yr o{ age (depending on the bone
measured),the contribution during childhood is considerable.A
number of measures have been shown to influence bone mass:
vitamin D (400-800 IU daily), calcium intake (>1,200 mg/day in
and weight-bearingexercisethroughout childhood.
adolescents),
-Weight-bearing
exercisewill enhance bone formation and reduce
bone resorption. Other factors that may prevent acquisition of
oeak bone mass include use of alcohol and tobacco. Excellent
iorrrces of dietary calcium include mainly dairy products, but also

DISORDIRS
ENDOCRINE
Fema
e hypogonadlsm
Turner
syndrome
(athleti(
trrad)
Hypothalamicamenonhea
Anorexla
neTvosa
ovafian
lallure
Premature
andprimary
a(etate
therapy
Depot
medroxyprogester0ne
o (f5R1),rrutati0ns
receptor
ktr0gen
nemia
|1yperprolact
Mae hypogonadism
(Kllnefelter
gonadal
syndrome)
failure
Primary
(idiopathrc
hypogonadism)
hypogonadotropic
gonadal
farlure
5ecordary
puberty
Delayed
Hyperthyrordism
dism
l.1yperparathyro
(therapeutic
disease)
or[ushing
Hyperco(is0lisrn
deficlencY
hormone
Growth
DISORDERS
GASTROINTESTINAT
(cystic
disease)
fibrosts,
celiac
syndromes
Malabsorptron
dsease
bowel
lnflammaory
obstructive
Ihronic
laundice
P rm a rbi i . i airny\ o , i sa r oo L h e,'rch o s e s
AlaCtasia
gastrectomy
Subtou
DISORDERS
MARROW
BONE
transplant
rnarrow
Bone
Lymphoma
Leukemia
(sickle
cellanemia,thalassemia)
anemras
Hemolytic
mano(ytosis
Sy5temic
DISORDERS
TISSUUBONE
CONNECTIVE
eosteoporosis
Juiieni
s impetfecta
0steogenes
syndrome
Eher-Danlos
syndrome
Marfan
nuria
Nomocyst
Fibrous
dysplasia
fractures
10w
tmpact
0rrecurrent
Previ0us
DRUGS
Alcohol
n
Hepar
ds
Glu(oco(i(ostero
Ihyroxrne
Anticonvulsants
r0rr0ne
slS
ag0n
n teeasi^o
6o'aootrop
(ycosporine
Ihemotherapy
(lgarettes
DISORDERS
MISCETLANEOUS
(cerebral
pahy,
atrophy)
muscular
spinal
lmmobiluatton
arthrltis
Rheumatoid
Renal
dlsease
triad
Arhleric
intake
dietary
Lowcalcium
dlsease
Gaurher

e n c e b o n e m a s s a r e r - r o ta v a i l a b l e .
The treatment of secondary osteoporosis is besr achieved by
rreatment of the underlying disorder when feasible' Hypogonadism should be treated with hormone replacement therapy,
especiallv in thin athletic women. Calcium intake should be
In glucocorricoid-induced
inc.easei to 1,500-2,000mg/day.
osteoporosis, an emphasis on the lowesr possible dose to prevent
diseaie activity (inflammatory

bowel disease) with alternate-day

2898r PABT)UXl r BoneandJointDisorders

or topical therapy and the use of inhaled slucocorticoids in
asthma is essential.Special diets for inborn err-orsof metabolism
are also appropriate. Celiac diseasemay be overrepresentedin
adults with osteoporosis and should be screenedfoiand treated

Beier F, LuValle P: The cyclin D1 and cyclin A genesare targetsof activated

PTH/PTHTP recepror in Jansen's metaphyseal chondrodysplasia.Mol
EndocrinoI 20021,6 :276 3-2773.
Birch K: Femaleathletetriad. Br Med J 2005;330:244-246.
Boyden LM, Mao J, Belsk;rJ, et al: High bone density due to a mutarion in
LDl-receptor relatedprotein 5. N Engl I Med 2002;346:1513-1521.
Cundy I lVheadon L, King A: Trearment of idiopathic hyperphosphatasia
with intensive bisphosphonate therapy.I Bone Miner Res20i04;19:703_71,1,.
Fewtrell MS: Bone densitometryin children assessed
by dual x ray absorptiometry: Uses and pitfalls. Arch Dis Chitd 2003$8:795-79g.
Gordon CM, BachrachLK, CarpenterTO: Bone health in children and adolescents.Curr Prob Pediatr Adolesc Health Care 2004;34:221-24g.
Hsu Jw, VogelsangG, Jones RJ, Brodsky RA: Bone marrow transplantation
in Shwachman-Diamond syndrome. Bone Marrora Transplant 2002i0:
255-258.
Ioannidis JPA, Ralston SH, Bennett ST, er al: Differential genetic effects of
ESR1 gene polymorphisms on osteoporosisourcomes.
JAMA 2004;292:
2105-2114.

Jonsson KB, Zahradnrk R, Larsson I et al: Fibroblast growth facror 23 in

oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med
2003348:1656-1,663.
Kholsa S: Parathyroid hormone plus alendronate-a combination that does
not add up. N Engl J Med 2003;349:1277-1279.
Loud KJ, Gordon CM: Adolescent bone health. Arch Pediatr Adolesc Med
2006t160:1026-1032.
Mumm S, Jones J, Finnegan P, Whyte MP: Hypophosphatasia: Molecular
diagnosisof Rathbun'soriginal c ase.J Bone Miner Res200J;J3:1724-1727.
ScholesD, LaCroix AZ, Ichikawa LE, et al: Changein bone mineral density
among adolescent women using and discontinuing depot meoroxyprogesterone acetate conrraception. Arch Pediatr Adolesc Med 2005.159:
1.39-1,44.
Solomon CG: Bisphosphonates and osteoporosis. N Engl I Med 2002;
346:642.
Stenson WF, Newberry R, Lorenz R, et al: Increased prevalence of celiac
diseaseand need for routine screeningamong parient; with osteoporosis.
Arch lntern Med 2005;155:393-399.
Van der Sluis IM, de Ridder MAJ, Boot AM, et al: Referencedata for bone
density and body composition measured with dual energy x-ray absorptiometry in white children and young adults. Arch Dis Child 2002:g7:
341.-347
Whyte MP, Hughes AE: Expansile skeletal hyperphosphatasiais caused by a
15-basepair tandem duplication in TNFRSF11A encoding RANK and is
allelic to familial expansile osteolysis.J Bone Miner Res 2002;1,2:26-29.
\ilhyte MP, Wenkert D, Clements KL, et al: Bisphosphonate-inducedosteopetrosis. N Engl J Med 2003;349:457463.