Otolaryngol Clin N Am

40 (2007) 141–160

Congenital Malformations
of the Oral Cavity
Darryl T. Mueller, MDa,*,
Vincent P. Callanan, MD, FRCSb
a
Department of Otolaryngology-Head and Neck Surgery, Temple University School
of Medicine, 3400 North Broad Street, Kresge West Building, Suite 102,
Philadelphia, PA 19140, USA
b
Department of Otolaryngology-Head and Neck Surgery, Pediatric Otolaryngology,
Temple University, Temple University Children’s Medical Center,
3400 North Broad Street, Kresge West Building, Suite 102,
Philadelphia, PA 19140, USA

Congenital malformations of the oral cavity may involve the lips, jaws,
hard palate, floor of mouth, and anterior two thirds of the tongue. These
malformations may be the product of errors in embryogenesis or the result
of intrauterine events disturbing embryonic and fetal growth [1]. This article
begins with a review of the pertinent embryologic development of these
structures. After reviewing the normal embryology, specific malformations
are described. Recommended management follows the brief description of
each malformation. An attempt is made to point out where these malforma-
tions deviate from normal development. Finally, management recommenda-
tions are based on traditional methods and recent advances described in the
literature.

Embryology
Oral cavity
One can begin to see the early features of facial development by 3 weeks’
gestation. At this time, the pharyngeal arches can be seen bulging out later-
ally from the embryo. The open ends of the arches face posteriorly and sur-
round the upper end of the foregut and part of the primitive oral cavity or

* Corresponding author.
E-mail address: [email protected] (D.T. Mueller).

0030-6665/07/$ - see front matter Ó 2007 Elsevier Inc. All rights reserved.
doi:10.1016/j.otc.2006.10.007 oto.theclinics.com
142 MUELLER & CALLANAN

stomodeum. The common wall of the stomodeum and foregut is known as

the buccopharyngeal membrane. This membrane is found between the re-
gion of the future palatine tonsils and of the posterior third of the tongue.
Normally, the buccopharyngeal membrane breaks down at approximately
4.5 weeks’ gestation, establishing the connection between the oral cavity
and the digestive tract [2].

Mandible and maxilla

The first pharyngeal arch, or mandibular arch, begins to grow anteriorly
at 3 weeks’ gestation. This arch can be subdivided into a mandibular process
below and a maxillary process above. Growth centers become organized at
the tips of these arches through neural crest cell migration, vascularization,
and mesodermal myoblastic ingrowth. These growth centers are responsible
for closing the gap between left and right paired arches [3]. The tips of the
mandibular processes fuse at about 4 weeks, forming the mandible and
lower lip.
Development of the upper lip and palate involves the maxillary processes
and the medial nasal processes, which form at 4 weeks as the nasal pits
deepen. The maxillary and medial nasal processes begin to fuse at their
lower ends to form the nasal fin. This nasal fin then perforates, and connec-
tive tissue flows in to fill the groove between the right and left sides. Through
cellular migration upper lip connective tissue increases and slowly fills the
groove. By approximately 6 weeks, the maxillary and medial nasal processes
have fused in the midline, forming the upper lip and primary palate. The na-
sal pits deepen until they open into the primitive oral cavity. Palatal embry-
ology is covered in greater detail in the article by Arosarena in this issue.

Tongue
The tongue at 4 weeks has two lateral lingual swellings and one medial
swelling, the tuberculum impar. These three swellings originate from the first
branchial arch. A second median swelling, the copula or hypobranchial em-
inence, is formed by mesoderm from the second, third, and part of the
fourth arch. As the lateral lingual swellings increase in size, they overgrow
the tuberculum impar and merge, forming the anterior two thirds, or
body, of the tongue. The posterior one third of the tongue originates
from the second, third, and part of the fourth pharyngeal arch. The intrinsic
tongue muscles develop from myoblasts originating in occipital somites. The
body of the tongue is separated from the posterior third by a V-shaped
groove, the terminal sulcus. In the midline of the terminal sulcus lies the fo-
ramen cecum, where the thyroid gland appears as an epithelial proliferation
between the tuberculum impar and the copula. Later, the thyroid descends
anterior to the pharyngeal gut as a bilobed diverticulum. During this migra-
tion, the thyroid remains connected to the tongue by a narrow canal, the
thyroglossal duct. Normally, this duct later disappears [4].
 CONGENITAL MALFORMATIONS OF THE ORAL CAVITY 143

Mandibular fusion anomalies

Median mandibular cleft
Clefts of the lower face pass through the midline of the lip and mandible
(Fig. 1). Although paramedian lower lip and mandibular clefting have been
reported, there are fewer than 70 cases in the literature, appearing with less
frequency than the oblique facial clefts. A range of inferior clefting has been
reported that extends from mild notching of the lower lip and mandibular
alveolus to complete cleavage of the mandible, extending into inferior
neck structures. Tongue involvement is typical although variable in expres-
sion, ranging from a bifid anterior tip with ankyloglossia to the bony cleft
margins, to marked lingual hypoplasia. Inferior cervical defects (midline
separation, hypoplasia, and agenesis) of the epiglottis, strap muscles, hyoid
bone, thyroid cartilage, and sternum may also be present, particularly when
a cutaneous cleft passes caudal to the gnathion of the chin. Median mandib-
ular clefts result from failed coaptation of the free ends of the mandibular
processes. As the incisor teeth are frequently missing along the medial man-
dibular margins, this suggests partial or complete failure of growth center
differentiation and development rather than a simple fusion defect [3].
The lack of a consensus on the nature and timing of corrective surgery for
mandibular clefts can be explained by their rarity and variability. Most au-
thors propose correction of the soft tissue structures as soon as possible so
as not to cause feeding or speech problems and mandibular bone grafting
when the child is 8 to 10 years old to avoid damaging developing tooth
buds. Successful management of a complete cleft of the lower lip and mandi-
ble in a one-stage procedure in the first 2 years of life has been described,
however [5].

Micrognathia
Micrognathia, literally abnormal smallness of the jaws, usually refers to
a small mandible. Decreased mandibular size can occur as an isolated entity

Fig. 1. Median mandibular cleft without lower lip involvement. (Courtesy of Glenn Isaacson,
MD, Philadelphia, PA.)
144 MUELLER & CALLANAN

or as part of a recognized syndrome. Congenital micrognathia and glossop-

tosis are most commonly seen in patients who have Robin sequence, but may
also be associated with disorders such as Treacher Collins syndrome, Nager
syndrome, and hemifacial microsomia. Infants who have Robin sequence
typically have a U-shaped palatal cleft secondary to the tongue interfering
with closure of the palatal processes during embryogenesis (Fig. 2). Most
children born with micrognathia are asymptomatic or can be treated conser-
vatively with prone positioning and nasopharyngeal airways. Still, up to 23%
of children who have Robin sequence may have major respiratory obstruc-
tion. Tracheotomy is performed in up to 12% of patients who have severe
upper airway obstruction related to micrognathia [6].
Mandell and colleagues [6] recommend mandibular distraction osteogen-
esis as an alternative to tracheotomy. They concluded that tracheotomy may
be avoided in infants who have isolated Robin sequence and that obstructive
sleep apnea can be relieved in older micrognathic children. Mandibular dis-
traction osteogenesis is not sufficient to permit decannulation in previously
tracheotomized patients who have complex congenital syndromes. Chiguru-
pati and Myall [7] emphasize that most cases of airway obstruction attribut-
able to isolated micrognathia can be managed with surgery. In children who
have complete disease, interventions, such as tongue–lip adhesion or trache-
otomy, may be preferable to mandibular distraction. Children who have
craniofacial microsomia, velocardiofacial syndrome with significant pharyn-
geal hypotonia, Treacher Collins syndrome, or Nager syndrome may not
benefit from distraction during the neonatal period because of frequent
airway and temporomandibular joint anomalies.

Fig. 2. Arrow points to U-shaped palatal cleft secondary to Robin sequence. (Courtesy of
Glenn Isaacson, MD, Philadelphia, PA.)
 CONGENITAL MALFORMATIONS OF THE ORAL CAVITY 145

Maxillary fusion anomalies

Cleft lip and palate
As discussed previously, fusion of the components of the upper lip and
palate occurs later in embryogenesis and is more complex than that of the
lower lip. Clefting anomalies of these structures are therefore more common
and more varied. A comprehensive review of cleft lip and palate malforma-
tions may be found in the article by Arosarena in this issue.

Nonodontogenic (fissural) cysts

The nomenclature for cysts of the jaws and palate has changed within the
past 10 to 15 years. Fissural cysts are now classified as nonodontogenic
cysts. Several, including globulomaxillary, median palatal, median alveolar,
and median mandibular cysts, are no longer believed to exist. Accepted non-
odontogenic cysts include midpalatal cysts of infancy, nasopalatine duct
cysts, and nasolabial cysts.
Midpalatal cysts of infancy, or Epstein’s pearls, are keratin-filled cysts
that occur in the midpalatine raphe region near the mucosal surface.
They are usually seen at the junction of the hard and soft palates in the
midline and not seen on the posterior soft palate (Fig. 3). The origin is be-
lieved to be epithelial inclusions that persist at the site of fusion of the op-
posing palatal shelves. They typically number from one to six and are just
visible up to 3 mm in diameter. Cysts are noticed at birth or appear after
a few days, with new ones appearing up to 2 months, but all of them dis-
appear by 3 months. Management is by observation, because these cysts
spontaneously regress. Richard and colleagues [8] caution that a double
row of midline palatal cysts may be associated with an underlying submu-
cous cleft palate.
Nasopalatine duct cysts are unilocular, often asymptomatic cysts of the
anterior maxilla usually located between the roots of the central incisors.

Fig. 3. Arrow points to one of three Epstein’s pearls in typical midline location at the junction
of the hard and soft palate.
146 MUELLER & CALLANAN

These cysts arise from remnants of the embryonic nasopalatine duct epithe-
lium within the nasopalatine canal. They can produce a heart-shaped radio-
lucency in a maxillary occlusal radiograph when the anterior nasal spine is
superimposed on a central, spherical radiolucency (Fig. 4). Surgical excision
of the cyst, which is lined by squamous, respiratory, or both types of epithe-
lium, is curative [9].
The nasolabial cyst is microscopically similar to nasopalatine duct cysts
but is less common and occurs in the soft tissues of the upper lip at the
ala of the nose. It was considered a fusional cyst, but is now believed to arise
from remnants of the nasolacrimal duct. Treatment is surgical excision [9].

Oral vestibule anomalies

Labial frenula and oral synechiae
Abnormal labial frenula may involve the upper or lower lips. In infancy,
the maxillary labial frenulum typically extends over the alveolar ridge to
form a raphe that reaches the palatal papilla. If this persists after the erup-
tion of teeth it may result in a spreading of the medial incisors. Similarly, if
the mandibular labial frenulum extends to the interdental papilla, its trac-
tion can lead to periodontal disease and bone loss. Each type of aberrant
frenulum can be treated with surgical division when clinically significant.
Congenital oral synechiae can occur between the hard palate and floor of
mouth, the tongue, or the oropharynx. These are believed to arise from per-
sistence of the buccopharyngeal membrane that separates the mouth from
the pharynx in the developing embryo [10].

Fig. 4. Plain radiograph demonstrating central spherical radiolucency typical of nasopalatine

duct cyst.
 CONGENITAL MALFORMATIONS OF THE ORAL CAVITY 147

Lip pits
Congenital lip pits are rare. Three types are described, based on location:
(1) commissural, (2) midline upper lip, and (3) lower lip. They occur either
as an isolated defect or in association with other developmental distur-
bances, such as popliteal pterygium, van der Woude syndrome, oral-
facial-digital syndrome, and Marres and Cremers syndromes [11]. Lip pits
are depression sinuses lined by stratified squamous epithelium that com-
municate with minor salivary glands through their excretory ducts. Viscous
saliva can be expressed from the pits when pressure is applied. Lip pits may
be excised surgically to control infections or for cosmetic reasons [12].
van der Woude syndrome is an autosomal dominant condition in which
lower lip pits are found in combination with cleft lip or palate. The lip pits
are bilateral and symmetric paramedian depressions on the vermilion of the
lower lip (Fig. 5). Recent genetic studies have shown microdeletions at chro-
mosome bands 1q32–q41 to be the cause of van der Woude syndrome in
some families. The trait may be expressed as a submucous cleft palate or
the palate may be normal in affected individuals Paramedian lip pits also
may be a feature of the popliteal pterygium syndrome, characterized by
popliteal webbing (pterygia), cleft lip or cleft palate, genital abnormalities,
and congenital bands connecting the upper and lower jaws [13].

Astomia and microstomia

Astomia results from complete union of the upper and lower lips. Micro-
stomia refers to the rudimentary oral aperture sometimes seen in association
with holoprosencephaly [14]. Congenital syndromes associated with micro-
stomia include Hallermann-Streiff syndrome, oro-palatal dysplasia, Fine-
Lubinsky syndrome, and hemifacial microsomia (Fig. 6). Perhaps the most
dramatically small mouths appear in children who have Freeman-Sheldon

Fig. 5. Bilateral paramedian lower lip pits in a patient who has van der Woude syndrome.
(Courtesy of Glenn Isaacson, MD, Philadelphia, PA.)
148 MUELLER & CALLANAN

Fig. 6. Patient who has hemifacial microsomia demonstrating minimal microstomia. (Courtesy
of Glenn Isaacson, MD, Philadelphia, PA.)

syndrome, or craniocarpotarsal dysplasia, frequently referred to as whistling

baby syndrome.
Therapy for congenital microstomia is directed toward the underlying
structural abnormality. The oral aperture may be widened by stair-step
lengthening of the muscle in patients who have a congenitally small orbicu-
laris oris, such as those with Freeman-Sheldon syndrome. Free flap recon-
struction can interpose tissue to expand the oral opening if inadequate
tissue is present. Correction of maxillary and mandibular deficiencies may
correct oral asymmetry in some patients who have hemifacial microsomia.
Although surgery is often required, oral expansion devices may provide
enough widening to avoid invasive procedures [15].

Macrostomia
Congenital macrostomia, also known as transverse facial cleft, is a rare
facial developmental anomaly. It is often associated with first or first and
second branchial arch syndromes. Surgical correction involves symmetric
placement of the oral commissure, reconstruction of the orbicularis oris
muscle to restore labial function, reconstruction of the commissure with
a normal-appearing contour, closure of the buccal defect with a minimally
visible scar, and prevention of future scar contracture with lateral migration
of the commissure. Z-plasty closure of the skin defect was found to yield an
unacceptable scar, which worsens on smiling. Simple line closure of the skin
defect gives the most aesthetically pleasing result at rest and while smiling
[16].
 CONGENITAL MALFORMATIONS OF THE ORAL CAVITY 149

Oral tongue anomalies

Ankyloglossia
Ankyloglossia is the result of a short, fibrous lingual frenum or a highly
attached genioglossus muscle, which may be partial or complete. Incidence
ranges from 0.04% to 0.1% with an equal male to female ratio. Diagnosis is
made when the tongue cannot contact the hard palate and when it cannot
protrude more than 1 to 2 mm past the mandibular incisors (Fig. 7A). Com-
plete ankyloglossia is present when there is a total fusion between the tongue
and floor of mouth (Fig. 7B). Diagnosis of ankyloglossia should not be
made before development of the primary dentition, because the infant
tongue tip is not fully developed and appears short.
Indications for surgery include presence of a speech impediment, feeding
difficulty, periodontal pocketing, or psychologic problems. Correction should
be delayed until the child is 4 years old because of the possibility of spontane-
ous elongation of the tongue as it is used in normal articulation. General
anesthesia or conscious sedation is needed for younger patients. Nerve block
or local infiltration is usually adequate for older patients. After identification
of the submandibular duct papillae, the incision is carried posteriorly until the
tip of the tongue can contact the palate and extend beyond the incisors [17].
Ankyloglossia superior is an uncommon variant in which the tongue is
attached to the hard palate. If this situation occurs in conjunction with
limb or maxillofacial malformations, the condition is known as ankyloglossia
superior syndrome. This entity has also been associated with subglossal an-
kylosis, cleft palate, anencephaly, tracheoesophageal fistula, and patent fora-
men ovale. Surgical division under local anesthesia mobilizes the tongue [18].

Tongue fissures
Fissuring of the tongue, or lingua plicata, is believed to be an inherited
trait found in 0.5% to 5% of the general population. When found in

Fig. 7. (A) This patient who had partial ankyloglossia was unable to extend his tongue tip be-
yond the central mandibular incisors. (B) Almost complete fusion of the tongue and floor of
mouth in this patient who had near total ankyloglossia. (Courtesy of Glenn Isaacson, MD, Phil-
adelphia, PA.)
150 MUELLER & CALLANAN

association with persistent and recurrent orofacial swelling and facial nerve
palsy it may be part of the Melkersson-Rosenthal syndrome, a rare granu-
lomatous disease of unknown cause. No specific therapy is required for
tongue fissures alone, although brushing the tongue surface should be ad-
vised to remove any trapped food particles. Patients who have Melkersson-
Rosenthal syndrome should be screened for Crohn’s disease and hairy cell
leukemia because of a possible association with these diseases. Therapeutic
regimens for Melkersson-Rosenthal syndrome, including salazosulfapyri-
dine, antihistamines, antibiotics, and irradiation, have met with limited suc-
cess. Systemic or intralesional steroids may provide some benefit, and
methotrexate has been reported to resolve symptoms dramatically. Facial
nerve decompression may be indicated in cases of Melkersson-Rosenthal
syndrome with recalcitrant nerve palsy [19].

Median rhomboid glossitis

Median rhomboid glossitis presents as a well-demarcated, depapillated,
pink- to plum-colored patch on the dorsal surface of the tongue. This patch
may be round to rhomboid in shape and ranges from 0.5 to 2.0 cm wide.
Most lesions are found immediately anterior to the foramen cecum at the
location of the embryologic tuberculum impar, but may present off-center
or more posteriorly. Some patients describe persistent pain, irritation, or
pruritus, whereas others remain asymptomatic. Cause has traditionally been
considered developmental because of its consistent location at the site of the
tuberculum impar. Recent investigations of its epidemiology and histopa-
thology have suggested an infectious association, however. Candida has
been recovered in a high proportion of biopsy specimens in more than
one study. Also, the occurrence of median rhomboid glossitis in patients
who had diabetes was significantly higher than in matched controls [20].
Treatment involves observation and follow-up for asymptomatic cases.
Screening for diabetes or other immunocompromised states, in which the
incidence of candidiasis is high, should be considered. Finally, symptomatic,
persistent, or suspicious cases should be biopsied to rule out carcinoma.

Lingual thyroid
Ectopic thyroid tissue develops because of failed or incomplete descent of
thyroid tissue during embryogenesis. The tissue can be located at any point
along the normal path of descent from the foramen cecum to the low neck;
however, 90% are found at the posterior tongue in the midline. Prevalence is
1 in 200,000 in the general population and 1 in 6000 patients who have thy-
roid disease. Lingual thyroid is seen more frequently in women and often
represents the only functioning thyroid tissue. Patients may be euthyroid,
hypothyroid, or hyperthyroid, and thyroid malignancies have been re-
ported. Symptoms may present in infancy with respiratory distress or airway
 CONGENITAL MALFORMATIONS OF THE ORAL CAVITY 151

obstruction [21] or later in life with dysphagia, dysphonia, hemoptysis, and

respiratory difficulty, including obstructive sleep apnea [22]. Patients may
remain asymptomatic until the gland enlarges because of hypertrophy or
malignancy.
A radionuclide thyroid scan can confirm functioning thyroid tissue in the
normal location or other ectopic locations and help to differentiate ectopic
thyroid from a thyroglossal duct cyst. Treatment options for symptomatic
lingual thyroid may include hormone suppressive therapy, radioactive iodine
ablation, or surgical excision. Thyroid supplementation must be given post-
operatively if the resected lingual thyroid is the only source of endogenous
thyroid hormone. In asymptomatic patients, long-term follow-up is advised.

Macroglossia
Causes of congenital enlargement of the tongue include vascular malfor-
mations (Fig. 8), hemihyperplasia, cretinism, Beckwith-Wiedemann syn-
drome, Down syndrome, mucopolysaccharidoses, neurofibromatosis, and
multiple endocrine neoplasia, type 2B. Severity can range from mild to se-
vere, with drooling, speech impairment, difficulty eating, stridor, and airway
obstruction.
Macroglossia is a consistent manifestation of Beckwith-Wiedemann syn-
drome, which also may include omphalocele, visceromegaly, gigantism, neo-
natal hypoglycemia, and visceral tumors. Eight-five percent of these cases
are sporadic and 10% to 15% have autosomal dominant inheritance with
preferential maternal transmission [23].
In patients who have Beckwith-Wiedemann or hypothyroidism, the
tongue shows a diffuse, smooth, generalized enlargement, whereas other
forms of macroglossia usually demonstrate a multinodular appearance. Ex-
ceptional cases include lymphangiomas, in which the tongue surface is peb-
bly and exhibits multiple vesicle-like blebs that represent superficial dilated
lymphatic channels. In Down syndrome the tongue shows a papillary,

Fig. 8. Mild macroglossia secondary to lingual hemangioma. (Courtesy of Richard Rosenfeld,

MD, Brooklyn, NY.)
152 MUELLER & CALLANAN

fissured surface. In patients who have hemifacial hyperplasia, the enlarge-

ment is unilateral [13].
Treatment depends on severity of the condition. Surgical reduction of the
tongue may be indicated in cases of congenital macroglossia, Beckwith-
Wiedemann syndrome, and before or after orthodontic treatment or orthog-
nathic surgery. Many surgical incisions have been proposed, including
peripheral excisions, V-shaped wedge from the tongue tip, and an ellipse
taken from the midline. Peripheral excision leaves the tongue globular and
immobile, whereas V-shaped wedge shortens the tongue but does not nar-
row it, and midline ellipse narrows but does not shorten it. Pichler and Trau-
ner proposed a combination of an ellipse from the midline posteriorly and
a wedge from the tip performed simultaneously. This ‘‘keyhole’’ excision
allows both narrowing and shortening of the tongue. Taste and tongue
mobility are rarely affected by tongue reduction, and formal speech therapy
is rarely needed after the procedure [24].

Microglossia and aglossia

Extreme microglossia is uncommon, with fewer than 50 cases described.
Isolated microglossia occurs, but most cases are found in association with
limb abnormalities. Gorlin classified hypoglossia–hypodactylia syndrome,
one of the oromandibular-limb hypogenesis syndromes. Cause is unknown,
but might include drug or alcohol exposure during gestation, gestational
hyperthermia, and multifactorial or autosomal dominant inheritance with
variable expression and reduced penetrance.
Airway maintenance and nutritional support are immediate concerns.
Depending on symptoms, tracheotomy with nasogastric or gastrostomy
tube placement may be required. With overall growth of the infant, removal
of tracheotomy and feeding tubes can be accomplished. Two reports indi-
cate that speech defects were minor regardless of tongue size, although
tracheotomized patients had delay in language development. In the more se-
verely affected individuals, speech therapy is critical for development of
speech and swallowing function. Whether tissue transfer would aid in the
management of these patients is yet unproven [25].

Cysts and pseudocysts

Epidermoid and dermoid cysts
Epidermoid and dermoid cysts are benign lesions, occasionally (1.6%)
located within the oral cavity. These are true cysts with a wall composed
of keratinized, stratified squamous epithelium and, in the case of dermoid
cysts, fibrous connective tissue containing one or more skin appendages.
They usually present early in life as asymptomatic masses and are treated
by simple excision. If located sublingually (Fig. 9A, B), these cysts can ex-
tend into the neck as with a plunging ranula (see later discussion). In this
 CONGENITAL MALFORMATIONS OF THE ORAL CAVITY 153

Fig. 9. (A) Arrow points to small sublingual dermoid cyst. (B) Large sublingual dermoid cyst in
a patient who has Hurler syndrome.

case, surgical approach should be directed by the location of the larger

component. Removal of the middle third of the hyoid in continuity with
a cervical dermoid is controversial [26].

Lymphoepithelial cysts
Oral lymphoepithelial cysts developing within the lymphoid aggregates
located in the floor of mouth or ventral tongue. Possible causes include:
Obstruction of lymphoid crypts
Development from salivary or mucosal epithelium trapped in lymphoid
tissue during embryogenesis
Obstruction of the excretory ducts of the sublingual or minor salivary
glands
Secondary immune response in associated lymphoid tissue
These are true cysts with a lining of keratinized, stratified squamous epithe-
lium. Lymphoid tissue usually encircles the cyst, but may only involve a por-
tion of the cyst wall. Clinically, these cysts appear white to yellow, are firm
or soft to palpation, and are usually asymptomatic. Treatment is simple
surgical excision [13,27].

Mucoceles and ranulas

Mucoceles are common lesions of the oral mucosa resulting from leakage
of salivary mucin into the surrounding soft tissues with a granulating tissue
response. Because these cysts lack a true epithelial lining, they are classified
as pseudocysts. The most common location is the lower lip, where 60%
are found (Fig. 10). Clinically, these are usually small, fluctuant, and
154 MUELLER & CALLANAN

Fig. 10. Typical location of a mucocele in the vestibular portion of the paramedian lower lip.

asymptomatic mucosal swellings. Treatment consists of surgical excision

with removal of the associated minor salivary gland [28].
Ranula, or ‘‘little frog,’’ is the term given to mucoceles located within the
floor of the mouth. This variety of mucocele is typically larger and caused by
extravasation of mucin from the sublingual gland, or less commonly the
submandibular duct or minor salivary glands in the floor of the mouth. His-
tology is similar to mucoceles located elsewhere in the oral cavity. Clinically,
ranulas appear as blue, fluctuant swellings in the floor of the mouth lateral
to the midline (Fig. 11). The term plunging ranula is given to a ranula that
dissects through the mylohyoid muscle and presents within the neck
(Fig. 12A). The intraoral portion of a plunging ranula may not be clinically
evident, making diagnosis more difficult. Ranulas are treated by excision or
marsupialization. Removal of the associated salivary gland, in this case the
sublingual gland, decreases the risk for recurrence. Computed tomography
may help delineate the extent of involvement preoperatively (Fig. 12B). Sub-
mental or transcervical approaches frequently are used to approach the cer-
vical component of plunging ranulas (Fig. 12C, D) [13]. Recently transoral
excision of the pseudocyst and sublingual gland or sclerotherapy with

Fig. 11. Intraoral view of a large right-sided ranula. (Courtesy of Glenn Isaacson, MD,
Philadelphia, PA.)
 CONGENITAL MALFORMATIONS OF THE ORAL CAVITY 155

Fig. 12. (A) Arrow points to submental swelling suggesting ranula penetration of mylohyoid
muscle. (Courtesy of Glenn Isaacson, MD, Philadelphia, PA.) (B) Noncontrast CT of same pa-
tient revealing well-circumscribed, hypodense lesion of the floor of mouth extending inferiorly
to the level of the hyoid, resulting in mild airway compression. (Courtesy of Glenn Isaacson,
MD, Philadelphia, PA.) (C) Ranula appearance at surgery with tongue retracted. (Courtesy
of Richard Rosenfeld, MD, Brooklyn, NY.) (D) Transcervical approach was used to remove
this plunging ranula. (Courtesy of Richard Rosenfeld, MD, Brooklyn, NY.)

OK-432 has been advocated to avoid an incision in the neck for plunging
ranulas.
A rare condition that may mimic a ranula is congenital atresia of the or-
ifice of the submandibular duct. This condition is caused by failure of hol-
lowing of the epithelial tissue in the terminal portion of the duct during
embryologic development. An imperforate duct results in accumulation of
saliva, producing a cystic mass in the floor of the mouth. This lesion is
a true cyst of the submandibular duct with a complete epithelial lining. Sim-
ple incision or marsupialization of these cysts has been shown to produce
satisfactory results without recurrence [29].

Bohn’s nodules
Bohn’s nodules are inclusion cysts involving the vestibular or lingual sur-
face of the alveolar ridge in neonates and infants. They are believed to arise
from remnants of minor mucous salivary glands. These cysts cause no symp-
toms and may go unnoticed. They often appear between the second and
fourth month of after birth and can worry parents. They may be isolated
or multiple, white or translucent round papules (Fig. 13). Histologic
156 MUELLER & CALLANAN

Fig. 13. Bohn’s nodule of the lingual mandibular alveolar mucosa in this neonate. (Courtesy of
Ellen Deutsch, MD, Wilmington, DE.)

examination shows true epithelial cysts containing mucous acinar cells and
ducts. Treatment is not necessary, because Bohn’s nodules are innocuous
and disappear in a few weeks to months. Bohn’s nodules should be differen-
tiated from natal or neonatal teeth, which may be associated with several
genetic disorders [30].

Benign congenital tumors

Natal teeth
Natal teeth are displaced primary tooth germs that prematurely erupt
and are found at birth or within the first month of life. Mandibular central
incisors are most frequently involved, followed by the maxillary incisors. An
autosomal dominant pattern of inheritance may be seen. Natal teeth are as-
sociated with more than 20 syndromes, including chondroectodermal dys-
plasia, Noonan syndrome, pachyonychia congenita (an autosomal
dominant disorder of keratinization), oculomandibulodyscephaly, and
Turner syndrome.
Treatments include observation, smoothing of the incisal edge, or imme-
diate extraction. Smoothing of the incisal edge decreases discomfort during
breast feeding and prevents Riga-Fede disease, an ulceration in the floor of
the mouth. Natal teeth are removed when they are excessively mobile to pre-
vent the potential risk for aspiration. Left alone, a natal tooth becomes less
mobile with development of its root [31].

Epulis
Epulis, or congenital gingival granular cell tumor, is a rare benign soft
tissue tumor that appears exclusively in newborns. Females are affected
more often than males (8:1 to 10:1). These typically present at birth as a pe-
dunculated mass on the premaxillary or mandibular alveolar mucosa with
solitary or multiple nodules (Fig. 14) [32]. A large epulis can interfere
 CONGENITAL MALFORMATIONS OF THE ORAL CAVITY 157

Fig. 14. Epulis located on premaxillary alveolar mucosa in a newborn. (Courtesy of Ellen
Deutsch, MD, Wilmington, DE.)

with breathing and feeding. Reported size ranges from a few millimeters
to 8 cm.
Histologically, these benign tumors are composed of diffuse sheets and
clusters of polygonal cells containing round, small nuclei with abundant,
coarsely granular cytoplasm. A fine vascular network between granular cells
accounts for their tendency to bleed. Congenital granular cell tumors are
distinguished from the more common granular cell tumors by lack of pseu-
doepitheliomatous hyperplasia, absence of S-100 protein expression, and
positive reaction to CEA and HLA-DR antigen.
Treatment depends on tumor size and presence of any obstructive symp-
toms. Small, asymptomatic lesions may be observed until spontaneous
regression occurs. Larger lesions interfering with feeding or breathing
should be surgically excised under local or general anesthesia. If a potentially
obstructing lesion is identified on prenatal ultrasound, a multidisciplinary
team can be assembled to ensure airway patency at birth and effect a rapid,
simple removal of the tumor by ex utero intrapartum treatment (EXIT).
EXIT allows maintenance of adequate uteroplacental blood flow for up to
1 hour, giving ample time for surgical removal [33].

Heterotopia or choristoma
Heterotopia is synonymous with choristoma. These terms refer to the
displacement of normal tissue or organs into an abnormal location within
the body. Heterotopic tissue in the oral cavity is a rare finding, but has been
described in several case reports. Various tissue types have been found, in-
cluding gastric, intestinal, colonic, respiratory, neuroglial tissues, cartilage,
and bone.
158 MUELLER & CALLANAN

Fig. 15. (A) Arrow indicates heterotopic gastric mucosa–lined cyst involving the left floor of
mouth and sublingual region of this 1-day-old infant. (B) Contrast-enhanced axial CT demon-
strates a hypodense, bilobed lesion of the left floor of mouth. Open arrow points to anterior
lobe. Solid arrow points to posterior lobe. (C) Preoperative knowledge of bilobed quality of
the cyst led to further dissection at this point. (D) Specimen measured 6 cm in length and
was bilobed as demonstrated in preoperative CT.

Heterotopic gastric tissue can be found in a gastric or enteric duplication

cyst. The cause of gastric heterotopia is still unknown. The most commonly
held hypothesis is misplacement or sequestration of endoderm from the gas-
tric anlage in the developing tongue or floor of mouth around the fourth
week of gestation. Among enteric duplications, gastric heterotopias are
the most common [34].
These aberrant rests of tissue may present as an asymptomatic cyst or
mass (Fig. 15A, B), or may cause feeding difficulties or airway obstruction.
Treatment is usually simple surgical excision (Fig. 15C, D) [35].

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