Congenital Lower Limb Deformities

Congenital Lower Limb Deformities 35 Gamal Ahmed Hosny, Fuat Bilgili, and Halil Ibrahim Balci 35.1 Fibular Hemimelia Fuat Bilgili Fibular hemimelia is the most common congenital deficiency of the long bones. This disease is characterized by the absence of the portion or all of the fibula. It would be more accurate to consider the anomaly as a postaxial hypoplasia of the lower extremity because it is accompanied by other anomalies and deformities of the lower extremity [1]. 35.1.1 Embryonic Development and Pathologic Anatomy It is necessary to know the embryonic development of the fibula to understand how the fibular agenesis or fibular hypoplasia affects the foot and G.A. Hosny, Prof. MD (*) Orthopaedic Department, Benha University Hospitals, 11 Al Israa street, Mohandeseen, Cairo, Egypt e-mail: [email protected] F. Bilgili, MD, FEBOT Istanbul University, Istanbul Faculty of Medicine, Department of Orthopedic Surgery and Traumatology, Istanbul, Turkey e-mail: [email protected] H.I. Balci, MD, FEBOT Istanbul Faculty of Medicine, Orthopaedic and Traumatology Department, Istanbul University, Istanbul, Turkey ankle [2]. The embryonic development periods of the fibula and tibia are normally independent of each other. The foot is in equinus; the talus and calcaneus are in the same position horizontally, but the calcaneus is in the lateral position in the third week of the normal embryonic development. The fibula pushes the calcaneus to medial under the talus, which is the normal anatomic position during its development. At the same time, equinus is corrected and the foot becomes plantigrade [3]. If normal development of the ankle does not happen, the calcaneus cannot move to where it should be and talocalcaneal subluxation develops in the case of agenesis of the fibula. Moreover, fusion occurs between the talus and calcaneus in the majority of cases. The direction of the Achilles tendon forces axes changes because of the calcaneus, which is lateralized. This situation can lead to tibiotalar subluxation or dislocation. The force of the posterolateral muscles of the leg, which is lateralized on the valgus-positioned ankle, causes the development of valgus and procurvatum deformities of the tibia with the same mechanism. Similarly, the distal epiphysis of the tibia contributes to the development of valgus ankle with the effect of the abnormal muscle forces [1, 4, 5]. A fibrous band develops as a residual tissue in the place of the absent part of fibula as a result of proximal or complete absence of the fibula in the type 1B and type 2 fibular hemimelia according to the Achterman-Kalamchi classification [6]. © Springer International Publishing Switzerland 2018 M. Çakmak et al. (eds.), Basic Techniques for Extremity Reconstruction, https://doi.org/10.1007/978-3-319-45675-1_35 493 G.A. Hosny et al. 494 This fibrous tissue residue, which is known as fibular remnant or fibular anlage, is a structure that contributes to the development of the deformity at the crus [7]. 35.1.2 Classification There are many classifications including Achterman and Kalamchi [6], Letts and Vincent [8], Coventry and Johnson [9], Stanitski [10], Birch [11], and Paley [12]. Most are anatomic and based on the radiographic appearance. To be useful, a classification should guide treatment or predict prognosis. Achterman-Kalamchi Classification [6] Type 1A: Proximal fibula epiphysis is in the distal of the growth plate and smaller than normal. Distal fibular growth plate is in the proximal part of the talar dome. Type 1B: More than 50% absence of the proximal fibula, development of the distal fibula is present but it cannot support the ankle. Type 2: The complete absence of the fibula. Type 2 fibular deficiency is a limb with an unrecoverable foot, regardless of limb shortening. It is subclassified into two groups according to the presence or absence of upper extremity deficiency: • Type 2A: The foot is nonpreservable with intact upper extremity function. • Type 2B: The foot is nonpreservable with bilateral nonfunctional upper extremities. Salvage of the foot should be considered for hand function. The Paley classification [12] is based on hindfoot deformity and surgically oriented (reconstruction, not amputation). 35.1.2.1 35.1.2.2 Coventry and Johnson Classification Type 1: Hypoplastic fibula Type 2: Rudimentary or absent fibula Type 3: Bilateral fibular deficiency or the presence of “associated anomalies” Birch et al. [13] proposed a functional classification on the basis of the functionality of the foot and limb-length discrepancy as a percentage of the opposite side. 35.1.2.3 Birch Classification Type 1 fibular deficiency is a limb with a stable or salvage foot that has at least three rays. It is subclassified according to the percentage of limb-length inequality compared with the contralateral limb: • Type 1A: 0% to <6% overall shortening • Type 1B: 6–10% overall shortening • Type 1C: 11–30% overall shortening • Type 1D: >30% overall shortening 35.1.2.4 Paley Classification Type 1: Stable normal ankle Type 2: Dynamic valgus ankle Type 3: Fixed equinovalgus ankle (subdivided into four types according to ankle-subtalar pathoanatomy) • Type 3A–ankle type: The ankle joint is maloriented into procurvatum and valgus. • Type 3B–subtalar type: The subtalar joint has a coalition that is malunited in equinovalgus with lateral translation. • Type 3C–combined ankle and subtalar: Combination of the ankle and subtalar deformities above. • Type 3D–talar type: Malorientation of the subtalar joint. Type 4: Fixed equinovarus ankle (clubfoot type). 35.1.3 Etiology The latest theory assumes that the development of the extremity bud has an important role in the causes of postaxial hypoplasia (fibular hemimelia), although series of theories have been suggested. A pathology that affects the entire extremity can be seen even in cases where the fibular defect is limited. The fibular area of the extremity bud controls the development of the proximal femur in the fetal period. Femoral, knee, leg, and ankle abnormalities and the other abnormalities of the foot are associated with the 35 Congenital Lower Limb Deformities fibular area of the extremity bud. Therefore, lower extremity postaxial hypoplasia is a descriptive abnormality term that includes this group [14]. 35.1.4 Clinic A careful physical examination is required to assess the involved limb for associated anomalies in postaxial hypoplasia of the lower extremity (fibular hemimelia). This condition is important in the treatment plan, decision to treat, and informing parents. The ankle should be evaluated in terms of mobility, alignment, and deformities including equinovalgus or equinovarus. Hip and knee joints are examined for stability. ACL or PCL deficiency in knee joint may be present. Associated anomalies that may also be present: 1. Fibular anomaly can be from minimal shortness to complete absence of the fibula. 2. Proximal femoral deficiency. 3. Coxa vara. 4. External rotation of the femoral hypoplasia. 5. Lateral patellar subluxation. 6. Hypoplasia of the lateral femoral condyle. 7. Genu valgum with lateral mechanical axes. 8. Flattened tibial plateau with the absence of the cruciate ligament. 9. Short or curved tibia. 10. Valgus of the ankle. 11. Ball-and-socket ankle. 12. Absence of the tarsal bones. 13. Tarsal coalition. 14. Absence of the lateral row of the foot. 495 Pelvis and/or hip series are useful to determine acetabular dysplasia, proximal femoral deficiency, and proximal femur deformities (varus, valgus, antirotation, retrorotation). A knee X-ray is useful to evaluate the valgus of the distal femur, hypoplasia of the lateral femur condyle, and tibial eminence. Lower extremity standing orthoroentgenography can show anteromedial bowing of the tibia and congenital instability of the knee due to ACL or PCL deficiency. It can be seen that the patella is small and elevated, and femoral sulcus is shallow. Foot-ankle X-rays contribute to the determination of the morphology of the ankle, the contribution of the fibula to mortise, the morphology of the distal tibial epiphysis, and the occurrence of tibiotalar valgus, ball-and-socket ankle, and tarsal coalition. If the calcaneus and talus are overlapped on each other in the lateral radiograph of the foot, the source of ankle valgus is the supramalleolar region. If the calcaneus and talus are on top of each other in the lateral radiograph of the foot, the source of ankle valgus is the subtalar region [15]. 35.1.6 Treatment The main problems include limb-length discrepancy and deformity and instability of the foot and ankle. The final goal is to obtain maximum function by achieving a lower extremity that has adequate length at maturity, alignment, and stability. It should be kept in mind that the ultimate discrepancy at maturity is more important because it gets worse with growth. If it cannot be provided, the aim is a functional prothesis that allows the child to grow with the appropriate scheduled amputation. 35.1.5 Imaging Lower extremity orthoroentgenography including both legs taken when standing provides the analysis of the entire affected short leg and allows comparison with the opposite limb as a control. The differences of the length and alignment can be measured. The abnormalities at the specific areas can be imaged and further imaging can be taken if necessary. Conservative treatment If the child has a functional foot without significant deformity and the ultimate discrepancy at maturity would be <2 cm, no surgical treatment is required. Shoe lifting or UCBL (University of California Berkeley Laboratory) orthosis in mild cases is the preferred treatment. The patient should be followed up while growing for progressive knee or ankle deformities and leg length inequality [16]. 496 Surgical treatment The patient’s age at the time of consultation, the types of malformation, and other accompanied anomalies should be considered to decide the treatment. Preoperative evaluation includes the classification of fibular hemimelia, calculation of predicted leg length discrepancy at skeletal maturity, and the number of required lengthenings and/or epiphysiodesis and correction of knee joint deformity that may occur later. The treatment is started with soft tissue procedures. Paley developed the SUPERankle procedure to make the foot plantigrade in the treatment of types 3A, 3B, and 3C when a child is as young as 1 or 2 years of age. SUPERankle includes lengthening peroneal tendons and Achilles, excision of fibular anlage and intermuscular septum, osteotomy (supramalleolar or subtalar or both according to subtypes), transfixion wires from the sole of the foot into the tibia, and an external fixator to correct diaphyseal anteromedial bow. Deformations can be seen in the tibia and talus joints’ surfaces as a result of the adaptation of the ankle. Supramalleolar osteotomy is decided according to a preoperative MRI of the ankle joint or preoperative arthrography of the ankle joint. The presence of ankle movement affects the decision on timing of lengthening. If the ankle motion is good, lengthening is planned 6 months later to avoid decreasing range of motion in the ankle joint. If the ankle motion is stiff, lengthening can be applied at the same time with the SUPERankle procedure. Lengthening is made at the apex of the deformity if there is deformity, otherwise at the proximal metaphysis of tibia [15]. Acetabular orientation operations are usually performed before the femoral lengthening if there is an acetabular dysplasia with the shortness. Lengthening osteotomy in the subtrochanteric area is not performed if there is a length difference with coxa vara, because both crosssectional areas of this region are small and more exposed to bending moment. Instead, intertrochanteric valgus osteotomy for correction and distal femoral osteotomy for lengthening are performed. Serial lengthenings should be made at regular intervals to minimize the psychologic impact of operations and hospital stay on children. G.A. Hosny et al. Approximately 5 cm for each treatment and at intervals of 4–6 years apart are advised for a total of up to three or even four lengthening treatments in severe cases [15]. The parent must be informed about the treatment alternatives and treatment plan including number and timing of the operations and complications. Genu valgum can be progressive and should be corrected during the osteotomy of tibial deformity. Temporary medial hemiepiphysiodesis is recommended in patients with hypoplastic lateral femoral condyle because of the high rate of relapsing in early osteotomy. Proposed management guidelines of Achterman-Kalamchi and Coventry for congenital fibular deficiency are described (Tables 35.1 and 35.2). If the foot is functional with at least three rays and the predicted discrepancy is <20 cm, salvage of the foot with the goal of limb-length equalization is recommended. Otherwise, Boyd or Syme amputation is recommended with deformity correction using a circular external fixator in the Table 35.1 Proposed management guidelines of Achterman-Kalamchi for congenital fibular deficiency Achterman-Kalamchi classification Type Characteristics Recommended treatment Epiphysiodesis or 1A Hypoplastic lengthening as needed fibula(proximal to talar dome) 1B Fibula does not Epiphysiodesis or support talus lengthening as needed 2 Bilateral or Syme or Boyd associated anomalies amputation Table 35.2 Proposed management guidelines Coventry for congenital fibular deficiency Coventry classification of fibular deficiency Recommended Type Characteristics treatment Epiphysiodesis or 1 Hypoplastic fibula lengthening as with normal or slight needed deformity of tibia, ankle, and foot 2 Fibula rudimentary or Syme or Boyd absent amputation 3 Bilateral or associated No procedure anomalies anticipated of 35 Congenital Lower Limb Deformities Table 35.3 Proposed management guidelines of Birch [13] for congenital fibular deficiency Birch classification of fibular deficiency Type Characteristics Recommended treatment 1A Preservable foot No treatment or <6% LLI orthosis or epiphysiodesis 1B Preservable foot Epiphysiodesis ± lengthening 6–10% LLI 1C Preservable foot 1 or 2 lengthenings± 11–30% LLI epiphysiodesis or extension orthosis 1D Preservable foot >2 lengthenings or amputation or ≥30% LLI extension orthosis Amputation 2A Functional upper extremity unpreservable foot 2B Nonfunctional upper Salvage should be considered extremity unpreservable foot 497 a b Fig. 35.1 There is a mild level of shortness in type 1A fibular hypoplasia; knee is stable. If the expected shortness is above 5 cm, bone lengthening and deformity correction are performed. If the expected shortness is under 5 cm, shortness compensation is possible. Anteroposterior x-ray on the left, lateral x-ray on the right LLI limb-length inequality tibia or femur. If the predicted discrepancy is ≤5 cm, a contralateral pan genu epiphysiodesis can be applied at the appropriate time [16]. Birch et al. recommend amputation for patients with a nonfunctional foot, unless the upper extremities also are nonfunctional. For those with a functional foot, they decide according to leg length discrepancy compared with contralateral side (Table 35.3, Figs. 35.1, 35.2, and 35.3). Paley classification is directed to the more reconstruction rather than amputation even in severe cases (Table 35.4, Figs. 35.4 and 35.5). 35.1.7 Application of the Ilizarov Frame and Correction of the Deformity Tibia and foot deformities are corrected simultaneously in the matter of an existing hindfoot deformity by adding foot pieces to the frame that has been prepared to correct tibial deformity. The frame is prepared by inserting three rings in total: two rings proximally and one ring distally to the osteotomy zone. Two rings inserted on proximal metaphysis and diaphysis are attached to the tibia with two Fig. 35.2 Presence of severe shortness, ankle instability, equinovalgus foot, and valgus knee, when type 1A lateral malleolus is not functional. At first, anlage (fibular remnant) resection, ankle centralization, and deformity correction are performed. In the second stage, bone lengthening and, if necessary, deformity correction are performed. Clinical photo (a) and the x-ray (b) of the patient crossed and stopped K-wires. The proximal ring is attached to the middle ring with the four rods. Two or three olive K-wires are used for distal G.A. Hosny et al. 498 ring. These wires are inserted perpendicularly to the anatomic axis of the tibia and attached to the ring. The distal ring is then connected to the middle ring using two hinged rods and a motor unit. Fig. 35.3 Presence of complete fibula absence, tibia deformity, shortness, ankle instability, equinovalgus foot, and valgus knee of the patient with type 2 fibular hemimelia. Fibular remnant resection, cheiloplasty, deformity correction, bone lengthening, and ankle centralization were performed The hinges should be placed proximal to the osteotomy zone. Rotational center should pass through the anteromedial section of the tibial curvature. Medial hinge must be placed posterior to the patella and lateral hinge anteriorly in order to simultaneously correct procurvatum and valgus deformities. By laterally rotating the distal ring and by applying distraction through posterior rod, the valgus and procurvatum deformity can be corrected. If there is a tibial shortness, the tibia can be lengthened by distracting all three rods simultaneously. A foot frame is added to the distal ring to correct the equinovalgus deformity of the ankle. A calcaneal half-ring is fixed to the calcaneus using three olive K-wires. Then this halfring is connected to the distal tibial ring by adding three rods to the posterior, medial, and lateral of the half-ring. These rods are fixed to the calcaneal ring with a hinge to achieve correction of the valgus deformity. Another half-ring is fixed to the forefoot, proximal to the metatarsal bones, by using two or three olive K-wires. This half-ring is fixed to the calcaneal half-ring by using two hinged rods medially and laterally. The forefoot ring is adapted to the distal tibial ring in a T-shape with two hinged rods. Table 35.4 Proposed management guidelines of Paley for congenital fibular deficiency Paley classification of fibular deficiency Type Characteristics 1 Normal ankle 2 Dynamic valgus ankle 3 3A 3B 3C 3D 4 Fixed equinovalgus ankle, ankle type Fixed equinovalgus ankle, subtalar type Fixed equinovalgus ankle, combined ankle-subtalar type Fixed equinovalgus ankle, talar body type Equinovarus type (clubfoot) Recommended treatment Tibial lengthening Tendo Achilles lengthening Tibial lengthening Tendo Achilles lengthening Supramalleolar reorientation osteotomy SUPERankle procedure Soft tissue lengthening (peroneal tendons and tendo Achilles) Resection of the fibrous anlage and interosseous membrane Reorientation osteotomy Supramalleolar osteotomy Subtalar osteotomy Supramalleolar and subtalar osteotomy Opening wedge osteotomy of the body of the talus Convert the foot position from equinovarus to equinovalgus with Ponseti cast SUPERankle procedure 35 Congenital Lower Limb Deformities a 499 b c Fig. 35.4 SUPERankle procedure. (a–c) Soft tissue lengthening (peroneal tendons and tendo Achilles), resection of the fibrous anlage and interosseous membrane Hindfoot equinovalgus deformity is corrected by compressing the medial rod and distracting the lateral and posterior rod located between the calcaneal half-ring and the distal tibial ring. Forefoot abduction and equinus deformity is corrected by compressing the two vertical rods, which are placed anteriorly, and by distracting the laterally placed horizontal rode. If there is a talocalcaneal coalition, an osteotomy should be applied to the coalition site to correct the equinovalgus deformity. After the osteotomy, two K-wires inserted through the talus are fixed to the distal tibial ring with four rods. Other semi-rings of the foot are applied as described above, but in order to medially translate the calcaneus, small horizontal rods are added to the rods connecting the calcaneal semiring and the distal tibial ring. Hindfoot equinovalgus deformity is corrected by distracting the lateral and posterior rods, by compressing the medial rod, and by medially shifting the calcaneus with the aid of horizontal rods. If there is a lateral dislocation of the tibiotalar joint, the talus is crossed with a stopped K-wire from lateral to medial, and this K-wire is fixed to the distal tibial ring with a vertical and a transverse rod. By compressing the transverse rod, which means shifting the talus medially, the tibiotalar joint is reduced (Figs. 35.6, 35.7, and 35.8) [17, 18]. In cases with complete dislocation of the tibiotalar joint, initially the Achilles tendon is lengthened, and appropriate alignment of talus and calcaneus below the tibia is obtained. This is followed by tibiotalar joint arthrodesis and by proper tibial and calcaneal osteotomies if necessary. As told before, the purpose is to obtain a functional and plantigrade lower extremity. Removing the device The patient must be seen during the correction of the deformity and lengthening every 15 days; clinical and radiographic examination should be performed. After the deformity correction and lengthening is completed, the patient must be seen once a month until the consolidation is over. Treatment duration of foot deformity is 4–6 weeks on average. However, treatment of tibial deformity and shortness proceeds approximately 3–4 months. Because of it all of the device can be removed G.A. Hosny et al. 500 a b c d e Fig. 35.5 In type 3B, (a) arthrography of ankle joint shows that there is no deformity on the supramalleolar region. (b, c) Correction of the deformity with subtalar osteotomy and (d, e) fixation with K-wires are performed when the consolidation is completed. After removing the device, to prevent relapse, patients can be followed up with a cast or a brace. In cases with high risk of relapse after tibiotalar and subtalar joint deformity correction, an arthrodesis procedure may be considered when the patient reaches the proper age. If there is tibiotalar dislocation with serious lateral soft tissue contracture, arthrodesis should be kept in mind but considered as a last choice. Arthrodesis can be necessary for the stabilization in the tibiotalar and subtalar joint reductions after 12–15 years of age. 35.1.8 Complications The most frequent complication of fibular hemimelia is the treatment of soft tissue and pin infections. Infections can be treated very often with oral antibiotics and wound care. If an acetabular dysplasia accompanies the shortness, femoral lengthening without an acetabular directioning operation leads to hip dislocation (Figs. 35.9 and 35.10). Joint contractures are other common complications. They are caused by high tension over soft tissues. For the treatment of the flexion 35 Congenital Lower Limb Deformities Fig. 35.6 Patient with fibular hemimelia, preoperative graphs, and clinical manifestations a 501 b c d contracture of the knee, a femoral frame is added to the system after the contracture occurs or at the beginning of the treatment. If flexion contracture of the knee is not treated properly, subluxation or dislocation of the knee may occur (Fig. 35.11). For the treatment of flexion deformities of toes, a temporary percutaneous pinning or dynamic casting may be used. In cases with early consolidation, treatment may continue with a calloclasis procedure. Mechanical problems about fixator may occur such as breaking of K-wires or Schanz screws, abrasion of wires on bones during the correction, and soft tissue problems caused by wires or screws. In these circumstances the frame must be revised. G.A. Hosny et al. 502 a b c Fig. 35.7 Fibular anlage excision (a) and acute deformity correction (b–d) a b Fig. 35.8 Clinical and radiological manifestations in (a–f) and after (g, j) lengthening operation d 35 Congenital Lower Limb Deformities 503 c e Fig. 35.8 (continued) d f g G.A. Hosny et al. 504 h i j Fig. 35.8 (continued) a b c Fig. 35.9 A 12-year-old male patient with fibular hemimelia + PFFD and 14 cm of shortness. Lengthening is commenced by bifocal corticotomy. Patients orthorontgenogram (a), clinical photo (b), postoperative x-ray (c) 35 Congenital Lower Limb Deformities 505 Fig. 35.10 A hip dislocation occurs 2 months later a b Fig. 35.11 A 4-year-old patient with fibular hemimelia and proximal femoral deficiency. The knee was posteriorly dislocated (a). After the correction of the deformity (b), reduction is granted and lengthening is completed G.A. Hosny et al. 506 35.2 The Treatment of Tibial Hemimelia Gamal Ahmed Hosny 35.2.1 Introduction Tibial hemimelia or congenital absence of the tibia is very rare. The incidence in the United States is about one per million live births [19, 20]. The term congenital tibial deficiency had been also used in the literature to describe the tibial aplasia or hypoplasia with almost normal fibula [21]. The clinical picture usually includes flexion knee deformity, tibial shortening, and sometimes femoral lengthening and rigid equinovarus foot deformity (Fig. 35.12). This anomaly is often accompanied by knee instability and longitudinal deficiencies of the foot. Associated congenital anomalies of the hip, hand, or spine can be identified (Fig. 35.13) [22]. The mainstay of treatment was amputation and prosthetic fitting. Fig. 35.12 Photo of a 4-year-old child with type 2 tibial hemimelia showing severe varus foot deformity and tibial shortening 35.2.2 Anatomy The conventional management of tibial hemimelia was trans-articular knee amputation. Examination of the amputated part helped the researchers to investigate in detail the anatomy of the soft tissue and bony structures. Tarsal coalitions had been frequently reported with this condition [23, 24]. Turker et al. [25] dissected five lower extremities from four patients with tibial hemimelia. All patients had type1A (complete absence of the tibia) tibial deficiencies. Multiple tendon anomalies were present. The ankle articulation was found to have a nonfunctional uniplanar motion (sagittally oriented). The joint surfaces resembled two flat plates that rotated one on the other. The talar articulation was found on the posterolateral aspect of the talus and allowed motion only in one rotational plane. Multiple coalitions of the osseous structures of the foot were found, with subtalar coalition the most common. More midfoot coalitions were found in the medial column than in the lateral column of the foot. Distal Fig. 35.13 Plain X-ray showing complete absence of the tibia and bifid lower femur 35 Congenital Lower Limb Deformities metatarsophalangeal and interphalangeal joints all appeared to be mobile. The number of rays varied from four to eight. In unilateral cases, the affected leg was always shorter with decreased calf circumference. Despite the absence of the tibia and discrete musculature, the sural, deep and superficial peroneals, and a “posterior tibial” nerve were identified in all specimens. The dorsalis pedis and posterior tibial arteries were found associated with the nerve bundles. The greater and lesser saphenous veins were also present. The anterior tibial artery is frequently absent [26]. The posterior tibial neurovascular bundle was found to be quite short and acted as a tether in all of the specimens. The plantar fascia was not identifiable as a discrete structure in four of the five specimens. An abductor hallucis mass was present in all specimens, even those with hypoplastic or absent medial rays. An abductor digiti quinti was present in all specimens. The lateral and medial calcaneal branches as well as the common toe sensory branches of the “posterior tibial” nerve always passed under the medial abductor mass. The interossei were grossly present both plantar and dorsally in all specimens. A quadratus plantae was identified in all specimens. The flexor hallucis brevis and adductor hallucis were identified in the three specimens with five rays. The other two did not have discrete musculature in this layer. The multiple anomalies of the foot and ankle in tibial hemimelia can prevent the correction of these severe deformities [26, 27]. The ankle articulation was sagittally oriented in all five specimens. The joint surfaces resembled two flat plates that rotated one on the other. The talar articulation was found on the posterolateral aspect of the talus and allowed motion only in one rotational plane. The fibular articular surface was medially oriented. This placed the foot in a near-coronal orientation in reference to the trunk. This combination of articular positioning and rotational motion allows the foot to take its typical position facing the perineum. In another study, the gastroc-soleus complex appeared to be fibrotic, and it had its proximal attachment to the head of the fibula. The extensor hallucis longus tendon and the extensor digitorum longus tendon were also fibrotic. The extensor hal- 507 lucis longus was attached to the lateral aspect of the distal phalax of the right great toe. The extensor digitorum longus tendons were attached to the lateral four toes. The distal phalanx of the hallux was trifid. The lumbricals were observed over the right foot. Other muscles of the leg, namely, tibialis anterior, flexor digitorum longus, peroneus brevis, and peroneus longus, were normal. The Achilles tendon was attached to the calcaneum. The talus was fused to the calcaneum [28]. The tibia was not represented by any band during dissection [29]. 35.2.3 Classification In spite of the rarity of this anomaly, there are several classifications. Jones et al. in 1978 [30] reported four radiological types: Type 1A, complete absence of the tibia with hypoplastic lower femoral condyles (Fig. 35.14). Type 1B, the tibia is absent except the proximal anlage with almost normal femur. Type II (Fig. 35.15), the proximal end of the tibia is well developed, while the distal part is absent. Type 3, the proximal part is absent. Type 4 (Fig. 35.16), the tibia is short with distal tibiofibular diastasis. Kalamchi and Dawe in 1985 classified their patients into three types: Type 1, complete absence of the tibia, Type 2, absence of the distal part. Type 3, dysplasia of the distal tibia with diastasis of the tibiofibular syndesmosis. More extensive classifications were suggested by Weber [31]. The tibial malformations are divided into seven main groups and eight subgroups. The cartilaginous anlage is marked in the subgroups with “a” when it exists and with “b” when it is absent. This system has not been widely accepted [32]. We used Jones classification to classify our patients. However, there were many cases categorized outside this system. An example is congenital hypoplasia of the whole tibia with normal fibula (Fig. 35.17), separate soft tissue cover of dysplastic tibia and fibula, and short deformed tibia with subluxed tibiofibular joint (Fig. 35.18) [33]. The morphologic features include a dysplastic, short tibia, proximal migration of the fibular head, formed knee and ankle joints, and an equinovarus foot and may be an extramedial ray (Fig. 35.19) [34]. 508 Fig. 35.14 Type 1 Jones classification [complete absence of the tibia] Fig. 35.15 Type 2 Jones classification [absent distal tibia] G.A. Hosny et al. 35 Congenital Lower Limb Deformities Fig. 35.16 Type 4 Jones classification Fig. 35.17 Congenital hypoplasia of the tibia with normal fibula 509 G.A. Hosny et al. 510 35.2.4 Treatment Fig. 35.18 Clinical photo showing separate soft tissue cover to the proximal tibia and fibula Fig. 35.19 Severe deformity with diastasis of the upper tibiofibular joint Conventional treatment of tibial hemimelia is amputation and prosthetic fitting. Amputation in the very young age [before 1 year] can be considered as congenital amputation [35]. Besides, an early amputation allows better accommodation of the child to the prosthesis. The level of amputation is a matter of debate. It can be designed according to the longitudinal deficiency [36]. Spiegel et al. in 2003 reported a series of 15 patients [19 limbs] with tibial hemimelia treated with amputation. Patients with type 1 deficiencies were treated by knee disarticulation. There were no perioperative complications, and no additional surgical procedures were required. No specific prosthetic problems were identified at follow-up. Type 2 deficiencies were treated initially by foot ablation (Syme or Chopart) and a tibiofibular synostosis. All patients treated initially by foot ablation alone developed prosthetic irritation in the region of the proximal fibula due to varus alignment of the lower limb associated with a prominent and unstable proximal fibula. One patient had difficulties with prosthetic fit following synostosis attributable to a progressive 35 Congenital Lower Limb Deformities varus deformity. This was treated effectively by fibular epiphysiodesis and medial tibial physeal stapling 8 years after synostosis. There were no ongoing prosthetic problems at the time of the most recent follow-up. Limbs with type 3 deficiency were treated by Syme amputation and two developed complications, including symptomatic instability at either the proximal or distal articulation. Fernandez-Palazzi et al. [35] designed the treatment according to Jones classification: cases type 1A and 1B were treated with knee disarticulation. Treatment of type 2 was tibiofibular synostosis and below-knee amputation. Type 3 cases were treated with below-knee amputation, while type 4 were treated with talectomy and closure of the diastasis to centralize the foot. The role of fibular transfer in cases with complete deficiency of the tibia [37, 38] is controversial. Schoenecker et al. in 1989 [22] reported secondary amputation in 50% of cases treated with fibular centralization. Loder revised 87 cases from the literature, and he concluded that 53 out of 55 cases of type 1A Jones classification treated by Brown procedure had bad results due to progressive flexion knee deformity [39]. We would narrow the selection criteria to include only patients: (a) With documented quadriceps strength of grade III+ or greater (b) Younger than 1 year, because of the greater potential for proximal fibular hypertrophy (c) Without fibular bowing (d) With the physical potential to walk, with other functioning extremities (e) Without pterygium folds in the popliteal fossa These cause progressive flexion contractures [40]. There are several modifications to the original procedure, such as attachment of the patellar ligament to the proximal end of the fibula, step shortening of the femoral shaft, traction before surgery, hamstring releases if necessary, as well as other modifications. The most controversial topic in the treatment of type 1 deficiencies or complete absence of the tibia has been whether to perform fibular 511 centralization [41–43] or knee disarticulation [35]. It is always difficult to test the quadriceps muscle in infants and young children. However, the presence of the patella is a strong evidence of the functioning quadriceps. The status of the extensor mechanism is critical to the decision making, as patients with insufficient quadriceps strength often develop disabling flexion contractures following centralization and consequently bad result [21, 30]. Some researchers have reported favorable results in the presence of adequate quadriceps function [42, 43]. Knee instability was reported in most cases. Long-term follow-up of type 1A cases treated with reconstruction of the knee revealed marked instability as the broad femoral condyles face the small fibular head. Microsurgical transfer of the contralateral fibular head based on anterior tibial vessels to broaden the surface of broad proximal tibia to increase the stability had been reported. Anastomoses were performed side to side with popliteal artery and end to end with the two venae comitantes. Lateral ligaments were reconstructed with local tissues sutured to the periosteum of ipsilateral fibula and to the biceps femoris tendon stump of the contralateral transferred fibula. Follow-up revealed good lateral stability and fair knee range of motion. However, this was an occasional case report [44]. However, most authors prefer early through-knee amputation, given the anticipated good function with modern prostheses and unsatisfactory long-term results of fibular centralization. The progressive flexion knee deformity after Brown procedure had been treated by fusion of the upper fibula to the lower femoral condyles. However, in some cases with follow-up, the arthrodesed knee could develop the flexed position again. Management included the application of Ilizarov frame to the femur and tibia (Fig. 35.20). Corticotomy was done at the site of the knee. The frame comprised two hinges at the site of corticotomy placed anteriorly and a posteriorly placed distractor. After 3 days distraction started allowing for both gradual correction of the deformity and lengthening. Management of tibial hemimelia without amputation had been reported recently [45–48] 512 G.A. Hosny et al. a b Fig. 35.20 (a) X-ray showing arthrodesed knee in 90° flexion deformity; (b) Ilizarov frame applied to the femur and tibia and corticotomy was performed at the site of the knee; (c) gradual distraction to do lengthening and correction of the deformity; (d) X-ray at the end of distraction; (e) X-ray at follow-up after frame removal 35 Congenital Lower Limb Deformities c d Fig. 35.20 (continued) 513 G.A. Hosny et al. 514 Fig. 35.20 (continued) e as amputation was not an acceptable method of treatment. Hosny (2005) reported the preliminary results of treatment of tibial hemimelia without amputation [45]. The treatment of type 1A cases was based upon three stages. The first stage was application of Ilizarov external fixation to the tibia, femur, and foot. The head of the fibula was pulled down at a rate 1 mm per day till its level just below the femoral condyles. The side-to-side translation was applied after changing the frame links at the same rate to centralize the fibula between the femoral condyles. At the same time, distraction was applied between the fibular ring and calcanean half-ring to place the distal fibula opposite the talus. Differential lengthening of the medial and lateral sides between the calcanean and forefoot half-rings was applied concomitantly to correct the calcaneovarus foot deformity. The frame was removed 1 month after full correction of the deformities. Then, Brown procedure was performed to centralize the already centralized fibular head and to clear the soft tissue in between the reconstructed joint surfaces. The fibers of the patellar tendon was sutured to the fibula. There was no femoral or fibular shortening. The limb was kept in above-knee plaster cast for 6 months. Then, Ilizarov external fixator was reapplied to the femur, fibula, and foot to correct the residual knee, ankle, and foot deformities. For the knee, posterior distractor with two anteriorly positioned hinges was applied to distract the joint surfaces during flexion deformity 35 Congenital Lower Limb Deformities correction. After removal, above-knee plaster cast was applied for 1 month followed by aboveknee splint and weight bearing. Satisfactory results mean no fixed flexion knee deformity, active range of motion 10°–80°, and valgus or varus instability less than 5° [42]. The patients who were not ambulating before the operation could walk using knee-ankle-foot orthosis as there was residual instability of the knee and ankle in most cases. The centralized fibula can be lengthened once or twice to compensate for the limb-length inequality [49, 50]. However, most authors contraindicate lengthening in type 1A [45, 49] and recommend it in the other types. Conservative treatment of complete congenital deficiency of the tibia is long and fraught with complications in spite of early encouraging results [45, 47, 51]. However, after a mean follow-up of 18 years, Courvoisier et al. [46] reported the results of four cases treated conservatively by Ilizarov external fixator at the age of 1–4. In one case widening of the fibula was performed through longitudinal osteotomy and gradual distraction through multiple olive wires [transverse lengthening]. One case had bilateral amputation due to progressive deformity, and another case had knee arthrodesis. Schoenecker et al. [22] reported secondary procedures included four femorofibular arthrodeses and six knee disarticulations out of 14 limbs. Weber patella arthroplasty (fibular transfer with patellar flap to replace upper tibial surface) had been used if the patella is present [36]. 35.2.5 Foot Centralization Multiple surgical procedures may be required to correct deformities of the foot. However, retaining the foot is mandatory in some areas where the people refuse amputation due to their culture or traditions [45, 46, 48]. Foot centralization was first described by Myers and Brown [37, 52]. Foot centralization was performed by means of calcaneofibular (CF) arthrodesis. However, eventually a Syme amputation had to be performed to permit use of a below-the-knee prosthesis because of the recurrence of foot deformity after foot centralization surgery. Various authors have 515 described two techniques of foot centralization by means of CF arthrodesis or talofibular arthrodesis [53, 54]. The main problem was the high incidence of postoperative loss of correction or recurrence of the deformities. Other authors reported ankle centralization with distraction and soft tissue release [45]. Wada et al. in 2015 [55] presented 19 foot centralizations performed in 14 patients with Jones type 1 and 2 tibial hemimelia. The average age of patients at the time of surgery was 1.3 years (range 0.4–3.8 years). The average follow-up postoperative period was 10.2 years (range 2.2–22.9). All feet showed equinovarus deformity and were treated by foot centralization by means of calcaneofibular arthrodesis. At final follow-up, four of the operated feet were plantigrade without secondary surgery. The remaining 15 limbs, however, required secondary surgery to treat postoperative early loss of correction and/or recurrent foot deformities such as equinus, varus, and adduction, in addition to talipes calcaneal deformities, and fibular angular deformity at the fibular shortening osteotomy site. The deformities were treated either by repeat foot centralization or fibular or calcaneal osteotomy. There is a possibility for recurrence of the deformity until the distal fibular epiphysis closes, and the cartilaginous distal fibular end and calcaneus finally achieve ankyloses. Foot centralization has the advantages of preserving the patient’s original forefoot and providing a wide landing area for ambulation and keeping the distal fibular epiphysis, as it could be used as a “biological prosthesis.” However, there is a significant possibility of deformity recurrence and a high rate of secondary surgical corrections which has to be clarified to the families before deciding conservative approach [55]. Conservative approach to type 2 and other types had been more adopted than type 1 [45, 46, 48–50, 55]. Tibiofibular synostosis was usually performed as a first step. Then, Ilizarov external fixator was applied to the tibia [three rings], a half-ring to the calcaneus, and a half-ring to the forefoot. The proximal ring was applied to the tibia alone, leaving the upper fibula free. Corticotomy of the tibial was performed between the upper two rings, and distraction was applied after a waiting period ranging from 3 to 7 days G.A. Hosny et al. 516 according to the age of the patients [the younger the patient, the shorter is the waiting period to avoid premature consolidation of the regenerate]. Distraction was continued till the head of the fibula regains its normal anatomical position. Then, the patient was admitted to the operating theater again, and corticotomy of the fibula was undertaken with transfixing the head of the fibula to the upper tibia with a K-wire. This wire has to end flush with the fibula to avoid any pressure to the common peroneal nerve. Then, distraction was continued for both bones till the targeted lengthening achieved. Foot deformities were corrected gradually concomitantly with lengthening [45]. The progressive knee deformity prevented reaching the target length for fear of knee subluxation or dislocation. Femoral lengthening at another stage was performed in these cases to compensate for residual leg length inequality accepting the disadvantage of having the two knees at different levels which does not affect the function [56]. Regenerate formation during fibular lengthening had been reported to be slow [49]. These surgical steps are not fixed in all cases as the treatment strategy has to be adapted for each case [46]. The most challenging problems during lengthening are knee and ankle stability [46]. Ligamentous laxity and intra-articular knee deformities are the possible causes [57]. This might be the reason behind the development of progressive flexion knee deformity during tibial lengthening. Management of these deformities can be possible by application of the frame to the femur and posterior release. We could not elicit any reports of reconstruction of type 3 cases. Type 4 deficiencies can be treated successfully with limb (including foot) preservation. The ankle with tibiofibular diastases in the type 4 cases would function well and can be improved using tibiofibular synostosis, differential distal epiphysiodesis, and osteotomy [50]. However, in cases with marked separation and angulation of the distal tibia and fibula, osteotomy at the site of angulation can be performed followed by olive wires application and gradual transverse traction to close the diastasis. Besides, longitudinal traction to push the talus down is applied concomitantly. Cases with congenital hypoplasia had been treated with application of Ilizarov frame to the femur, tibia, and foot [28]. The tibial frame consisted of two ring mounted to the tibia alone with K-wires leaving the fibula free. Corticotomy was performed between the two rings. After a waiting period of 7 days, distraction started at a rate 1 mm per day till the upper and lower fibula regained the normal anatomical positions. The femoral frame was applied to guard against knee subluxation, while the foot frame was used to correct the foot deformities. 35.2.6 Complications Many complications had been reported in the literature during treatment without amputation. Pin track infection is the most commonly encountered complication which required systemic or local antibiotic or wire replacement in nonresponding cases. Fracture of the regenerate and fracture fibula occurred in few cases. Due to the foot anomalies, it was difficult to hold the calcaneus, and cutting through of the calcanean wire had been reported [45]. Nonunion of tibiofibular synostosis and knee stiffness were the main complications in another series [42]. Shahcheraghi and Javid reported the functional outcome of cases with tibial hemimelia treated with reconstruction. The patients or their parents filled out the pediatric quality of life and the parents’ satisfaction forms. It seems logical that longitudinally tibial deficiency, especially when it is often associated with other limb deformities as well, cannot be a fully normal individual. They stated that the preserved limb and foot cases—when specifically questioned—would have all been chosen to keep the foot and the leg where they to decide again. Reconstruction of tibial hemimelia with foot preservation provides good functional outcome in the majority of cases. The reconstructed group had a better functional score than the amputated group in the four groups of physical, social, psychological, or schooling scores when assessed separately—noting again that most amputated cases were part of bilateral hemimelia cases (Fig. 35.21). 35 Congenital Lower Limb Deformities Fig. 35.21 (a) X-ray showing congenital hypoplasia of the femur with normal fibula. (b) Application of Ilizarov frame to the femur, tibia, and foot and corticotomy was performed between the two tibial frames; (c) distraction was applied to the tibia alone; (d) distraction was continued; (e) X-ray at the end of distraction; (f) X-ray after removal; (g) follow-up X-ray a b 517 G.A. Hosny et al. 518 c d Fig. 35.21 (continued) 35 Congenital Lower Limb Deformities e f Fig. 35.21 (continued) 519 G.A. Hosny et al. 520 Fig. 35.21 (continued) g 35.2.7 Conclusions Tibial hemimelia is a very rare anomaly, which is frequently associated with other musculoskeletal anomalies in addition to lower limb shortening. Conventional treatment is still amputation in most centers. The debate is usually about the level of amputation. However, in some countries amputation is not an acceptable way of treatment. The limb preservation option is recommended in these circumstances which is dependent on knee stability, the expected limb shortening, and the severity of foot and ankle deformities. Ilizarov principles are a valid option in these cases as functional improvement is expected in all types of congenital absent tibia. 35.3 Proximal Focal Femoral Deficiency Halil Ibrahim Balci Proximal focal femoral deficiency (PFFD) is a rare congenital disorder characterized by abnormal development of the proximal femur and acetabulum, which results in a lack of integrity, stability, and mobility of the hip and knee joints. Malorientation, malrotation, and soft tissue contractures of the hip and knee are the main obstacles of treatment. Both deficiencies and deformities are nonprogressive but difficult to manage. Limb length discrepancy is especially problematic in cases of instable hip and knee joints. The diagnosis and classification of this disorder were mainly based on plain radiographs and the relationship between the acetabulum and proximal femur, but now we have magnetic resonance imaging (MRI) more anatomical findings to organise the treatment. Management of the disorder depends on the severity. The development of distraction osteogenesis and new findings that have given us a better understanding of the pathoanatomy provide the opportunity to reconstruct the extremity. Van Nes rotationalplasty can also be considered for extremly short and unconstructable femurs. PFFD is a confusing diagnosis because of the complexity of the terminology. The associated fibular deficiency, knee abnormality, foot and 35 Congenital Lower Limb Deformities 521 Fig. 35.23 PFFD type 3 according to Paley with absent femoral head extreme shortening and less than 45° of motion at knee Fig. 35.22 PFFD type 1 according to Paley with wellformed proximal femur and acetabulum ankle problems, and knee instability make the diagnosis, classification, and treatment much more difficult. Just for the femur, the extent of the clinical presentation can vary from a few centimeters of shortening with a well-developed hip and knee joint to complete absence of the whole femur with lack of hip and knee joint. The shortening and extent of the development of hip and knee joint become important when we talk about the treatment of PFFD (Figs. 35.22 and 35.23). Varus, retroversion, and external rotation deformity of the proximal femur can associate with pseudoarthrosis, stiffness, or complete absence of the femur with different presentation of acetabular dysplasia. The knee joint mostly has hypoplastic or absent anterior cruciate ligament, multiplanar instability, and hypoplastic lateral femoral condyle with valgus deformity. The most common associated lower extremity congenital disease is fibular hemimelia [58]. There are multiple classification systems because of all these complexities: Aitken [59], Gillespie [60], Pappas [61], and Paley [62]. Aitken classification, which was the most used until a few years ago, does not evaluate the cartilaginous and soft tissue abnormalities and is based primarily on X-ray findings. Class A is characterized by a short femur with a wellformed femoral head attached to the femoral shaft and a well-developed acetabulum. In class B, the acetabulum is either adequately developed or moderately dysplastic. No osseous connection is seen between the femoral head and shaft at skeletal maturity. The femur is short with a proximal bony tuft. Class C has a severely dysplastic acetabulum with an absent or very small femoral head that is not attached to the femoral shaft. The femur is short with a tapered proximal end. Class D is the most severe form. The femoral head and acetabulum are absent. The femur is shortened and often pointed proximally [63, 64]. 522 G.A. Hosny et al. Fig. 35.24 Preoperative X-ray of type 1 b PFFD according to Paley MRI has allowed us to understand the pathoanatomy in three dimensions. The presence of a cartilaginous femoral neck can now be confirmed with MRI. The coxa vara greater than 90° of varus and flexion are common fixed abduction contracture. Paley suggested a new classification according to MRI and anatomic findings. The shortening and hip and knee issues became important to decide whether the limb was reconstructable. He also suggested the SUPER hip 1, 2, and 3 techniques to solve all of problems in a single operation in patients as young as 2–3 years of age to avoid the problems that prevent lengthening. Dr. Paley suggested correcting all of these deformities with a technique described by himself called as Systematic Utilitarian Procedure for Extremity Reconstruction (SUPER) hip procedure [62]. The proximal femoral reconstruction (SUPER hip) prevents worsening of coxa vara deformities, proximal migration of the femur, and dislocation of the hip during lengthening procedures (Figs. 35.24, 35.25, and 35.26). Fig. 35.25 Postoperative AP pelvis X-ray of patient Fig. 35.24 after SUPER hip 1 procedure Paley emphasized the importance of the knee joint for the reconstructibility of deficiencies. The most common form of deficiency is type 1. Especially in type 1 deficiencies, if the center edge angle is more than 20°, the neck shaft angle is more than 110°, and if the medial proximal femoral angle (MPFA) is not less than 70°, no hip surgery is required before the first lengthening. There is also no need for the knee surgery if the fixed flexion deformity is less than 10°, the patella tracks with no subluxation laterally, and there is no evidence of significant rotary subluxation or dislocation [62]. Femoral deformities consist of three planar bone deformities and soft tissue contractures. Abductor contracture can cause recurrence. Varus deformity is associated with extension, 35 Congenital Lower Limb Deformities 523 Fig. 35.26 Postoperative frog leg X-ray of patient Fig. 35.24 after SUPER hip 1 procedure external rotation, and retroversion, which are caused by the piriformis muscle. Reflection of the tensor fascia lata to use for the extra-articular reconstruction of cruciate ligaments, hip flexion contracture release, abduction and external rotation contracture release, and three planar proximal femoral osteotomies are the main components of the procedure. Fixation of the osteotomy can be achieved using plates or rush rods [62]. For type 2 deficiencies, Paley also achieved ossification of the collum femoris of the hip with bone morphogenic protein. However, he also suggested that rotationplasty was the most reliable solution for Paley type 3 PFFD. As the congenital femoral deficiency can also affect the knee joint (both patellofemoral and tibiofemoral), stabilization of the knee is a critical procedure before lengthening. Isolated anteroposterior instability of the tibiofemoral joint without knee joint dislocation or rotatory subluxation does not need to be addressed before lengthening. Isolated subluxation or dislocation of the patella should be treated before lengthening [62]. Paley described the SUPER knee procedure, which is a combination of the Langenskiold procedure [65], which was designed for congenital dislocation of the patella, the MacIntosh procedure [66, 67] (extra-articular reconstruction for anterior cruciate deficiency), and the Grammont procedure [68, 69] which was designed for recurrent dislocation of the patella. Macintosh intraand/or extra-articular anterior collateral ligament reconstruction is performed with tensor fascia lata posterior limb tendon harvest, which can be obtained during the SUPER hip procedure. Extra- articular posterior collateral ligament reconstruction (reverse MacIntosh) is performed with anterior limb of the tensor fascia lata. In cases of knee flexion contracture, after the decompression of the peroneal nerve at the fibular head, posterior soft tissue lengthening and capsular release can be performed. When patellar maltracking is more significant, medial transfer of the patellar tendon at the insertion is performed with the Grammont procedure. When fixed subluxation or dislocation is present, the modified Langenskiold procedure is performed. Patellar realignment prevents patellar dislocation and knee extension contracture. The ACLPCL reconstruction prevents knee subluxation/ dislocation and late problems of knee instability in adolescence. The “SUPER knee” procedure is mostly performed at the same time as the pelvic osteotomy and SUPER hip procedure. In case of acetabular dysplasia, we decide the type of acetabular osteotomy according to the intraoperative findings. Most of the time the deficiency is seen anterolaterally. Therefore, we prefer Dega osteotomy. Prior to the introduction of the Ilizarov method and distraction osteogenesis in the Western world in the 1980s, lengthening for PFFD was worse than no treatment. The complication rates were high with little gain in length, and permanent damage to the hip, knee, and ankle was common. Only ossified proximal femoral neck cases were lengthenable after correction of the varus, external rotation, and retroversion deformity of the proximal femur and acetabular dysplasia. Cases with delayed ossification and over 90° of 524 G.A. Hosny et al. Fig. 35.27 Monoplanar external fixator is combined with circular ring to secure the knee joint complex angular deformity had a high recurrence rate. Recurrence of the deformity prevents us from lengthening the femur in a safe way. Stabilizing surgery for the hip and knee joint makes the lengthening process much easier compared with the past. For lengthening of the femur in PFFD, we prefer distal femoral osteotomy if we do not need to perform valgization and/or internal rotation. External fixation is the only method in lengthening of congenital cases. The amount of lengthening is decided according to the follow-up of the patient. The quality of bone regenerate, knee and hip range of motion, and joint subluxations are the main criteria. The main advantage of external fixation only is that one can secure the knee joint with an external fixator without preventing knee joint motion. Our most preferred method with circular-type external fixator is to extend the fixation to the tibia using hinges placed at the center of rotation of the knee, the intersection of the posterior femoral cortical line, and the distal femoral physeal line. We prefer a half-ring placed perpendicular to the tibia (Figs. 35.27, 35.28, and Fig. 35.28 Lengthening of the femur in PFFD patient. AP X-ray of hip, femur, and knee joint taken during the follow-up to check hip subluxation, regenerate quality, and lengthening amount 35.29). After fixation of the hinges, a removable knee extension bar is inserted between the distal femoral ring and the tibial half-ring. The extension bar is removed during the physical therapy. We start lengthening on the 5–7th day and physical therapy on the 2nd day after the operation. Patients are usually followed up every 2 weeks for radiographic and clinical assessments. Clinically hip and knee range of motion, knee subluxation, and pin-site problems, radiologically, the distraction gap length, regenerate bone quality, limb alignment, and joint location, are assessed. We prefer to start 1 mm of lengthening 35 Congenital Lower Limb Deformities Fig. 35.29 Lateral X-ray of the femur and knee during the follow-up to check the knee joint subluxation if any per day in four increments. But, as in all congenital disorders, we decrease the speed to 0.75 or even 0.5 mm per day after the early consolidation risk decreases (1–2 cm of distraction). As the distraction gap increases, joint motions are restricted. Close follow-up of the joints (hip and knee) is important. Ménard-Shenton line for the hip and lateral view of the knee joints must be checked for each visit during the distraction and even early consolidation phases. In congenital cases, especially in PFFD after the removal of the external fixator, prophylactic rush pin application seems logical to prevent fractures and continue the physical therapy more safely. In most scenar- 525 Fig. 35.30 Clinical AP view of the patient with a Paley 1 PFFD after the SUPER hip and first lengthening procedures. To prevent LLD patient will need at least two more lengthening procedures ios patients need three lengthening operations, 7–8 cm lengthening in each to reach the goal of no limb-length discrepancy (Figs. 35.30 and 35.31). The first and sometimes also the second needs to be performed with an external fixator. However, the third lengthening, if the knee and hip joints are well formed and stable, can be performed via implantable internal devices (nails). The appropriate age group for lengthening is children aged 5–7 years, 10–12-year-olds, and adolescents. One should never forget that PFFD, even in its less severe form, is the most difficult lengthening that an orthopedic surgeon will be 526 G.A. Hosny et al. Fig. 35.31 Lateral view of patient Fig. 35.30. Flexion of the knee joint is well preserved Fig. 35.32 Van Nes rotationplasty clinical view faced with during their career. Complications and sequelae should be overcome by experienced surgeons and the team built by the surgeons, physical therapists, and care center, which is experienced in lengthening procedures. If the deformity and the shortening are unilateral, the physician should not forget to discuss the benefits of the epiphysiodesis around the knee joint of the contralateral extremity. Excessive lengthening can be prevented so as to avoid limblength discrepancies. In very extreme cases such as Paley type 4 and 3B and 3C cases, one should never forget Van Nes rotationplasty (Fig. 35.32). Sometimes, the lack of femur or very short femur makes the deficiency difficult to reconstruct. Rotationplasty enables the ankle joint to be used as a knee if rotated 180°. Special prostheses are adapted and the patient is educated as to how to fit them. Functionally, patients profit from rotationplasty, but we should talk and help the patient understand the aim of the procedure and what to expect (Figs. 35.33 and 35.34); although the procedure increases the functionality of the lower limb, it can be difficult for patients to accept rotating the lower limb to 180°. 35.3.1 Paley Classification of Congenital Femoral Deficiency Type 1: “Intact femur” with mobile hip and knee (a) Normal ossification proximal femur (b) Delayed ossification proximal femur Type 2: “Mobile pseudarthrosis” with mobile knee (a) Femoral head mobile in acetabulum (b) Femoral head absent or stiff in acetabulum 35 Congenital Lower Limb Deformities 527 Fig. 35.33 Ankle (new knee) joint in extension Type 3: “Diaphyseal deficiency” of femur (a) Knee motion 45° or more (b) Knee motion less than 45° (c) Complete absence of femur Type 4: “Distal deficiency” of femur 35.4 Fig. 35.34 Ankle (new knee) joint is in flexion 1/150000 birth), but it has one of the most difficult treatments. A lot of mechanical and/or biological techniques which have different success rates are defined in CPT treatment. Prognosis of CPT has become better through the agency of vascularized fibula transfers and Ilizarov methods in recent years [70, 71]. Congenital Pseudoarthrosis of Tibia 35.4.2 Clinical Diagnosis Fuat Bilgili 35.4.1 Introduction Congenital pseudoarthrosis of the tibia (CPT) is defined as a bone diaphysis disorder, which presents with pathologic fracture-related medullary narrow canal or cyst formation. It presents with different clinical formations variant from massive bone defects related nonunion to simple bone defect. CPT is a rare disorder (frequency Anterolateral bowing of bone can be noticed since first days of life. It may present primary pseudoarthrosis in neonatal form or secondary pseudoarthrosis after pathologic fracture in walking age. Severity of shortness in the lower extremity is variable [72]. Unilateral involvement is often seen in CPT. Fibular pseudoarthrosis is also present in over half of patients. Primary localization is in the middle or distal third of the tibia regardless of gender or size [70]. G.A. Hosny et al. 528 Over half of the patients with CPT have neurofibromatosis type 1 (NF1) disease [73, 74]. In contrast, bone bowing and CPT rate in NF 1 is less than 4% [74, 75]. NF1 is a multisystemic neurocutaneous disease which is inherited OD and occurs one in 4000 births. Bone anomalies in NF1 may be primary bone lesion or secondary to soft tissue damage causing bone deformity. For differential diagnosis of isolated CPT from the bone deformities in NF type 1, the skin should be examined for café au lait spots, freckling in the axillary or inguinal regions, and neurofibromas. Furthermore, family history should be questioned [74]. There is dysfunction in the differentiation of periosteum to myofibroblasts or chondrocytes whether or not CPT is associated with NF1 [76]. Bone healing is not affected adversely in CPT related with NF1 [72]. In differential diagnosis, ring constriction or amniotic band syndrome, fibrous dysplasia, osteomyelitis, fibrosarcoma of infancy, and fibular hemimelia also should be considered. a 35.4.3 Imaging Simple anterolateral convex bowing or real tibial discontinuity was seen in plane radiography (Fig. 35.35). There are also cyst formations starting with bone bowing between the age of 6 weeks and 1 year of life. Cortex in the concave side of curvature is intact, intense, and thick. Medullary canal is narrow, and cystic appearance may be noticed in the apex of curvature. Severity of the deformity increases when the cortex is fractured. Transverse fracture occurs [71]. In dysplastic forms, there is bone bowing in birth, and sometimes even pseudoarthroses already exist. The tibia is narrow like a sandglass, and the medullary cavity is destructed here. In these types, the fibula is frequently affected. Bone ends could be thin, atrophic, or hypertrophic when pseudoarthroses occur. These radiological features define the criteria which are the basis in differential diagnosis of CPT. Developments in MRI give detailed information b Fig. 35.35 Preoperative clinical (a) and radiographic view (b, c) of patient with CPT c 35 Congenital Lower Limb Deformities 529 about bone and soft tissue around pseudoarthrosis. New bone perfusion sequence can show vascularization defects, determinate borders of resection, and helps us to understand the pathophysiology of this disease [77]. 35.4.4 Classification These are some classification systems: Anderson classification, Crawford classification, Boyd classification, and Apolin classification [70]. Anderson classified the pseudoarthrosis under four morphologies: dysplastic, cystic, late, and a clubfoot type with associated congenital abnormalities. Crawford described four types of congenital tibial pseudoarthrosis. Anterolateral bowing is common in all types. • Type I: intact medullary canal with a cortical thickening at the apex of the bowing. Follow-up is recommended because of best prognosis. • Type II: there is tabulation defect in the medullary canal with cortical sclerosis. These patients must be protected to avoid fractures. Surgical treatment should be planned. • Type III: there is a prefracture cystic lesion. Early surgical treatment is required in this type. • Type IV: there is fracture or pseudoarthrosis. The worst prognosis is seen in this type. Early surgical treatment is required (Table 35.5). A limitation of all classifications lies in the alteration of the disease morphology during growth. However, initial classification affects the prognosis. El-Rosasy-Paley classification is mostly used in clinical experience [78]. This classification is based on three parameters: (1) history of any previous surgery (yes or no), (2) clinical examination of bone ends (mobile or stiff), and (3) the radiologic type of pseudoarthrosis (atrophic or hypertrophic) (Table 35.6). 35.4.5 Prognostic Factors Some prognostic factors for CPT have been reported [71, 79, 80]: • If the localization of pseudoarthrosis is in distal or inferior metaphysis, control of distal fragment becomes hard. Requirement to involve the ankle and foot in fixation may result in articular sequelae. • The type of pseudoarthrosis is an important parameter. Bone atrophy with severe deformities, significant bone shortness, and small bone diameter with intense sclerotic lesions are indicators of poor prognosis. • Presence of fibular pseudoarthrosis worsens the prognosis. • Shortness of the lower extremity is derived from superimposed bone edge and angulation. Especially, the number of operation, significant angulation which resulted from recurrent fractures, and remaining bone reserve are important prognostic factors. Resorption of the graft is a poor prognostic factor. Table 35.5 The three classifications (Crawford, Anderson, Boyd) of CPT Crawford Anderson Boyd I I II Sclerotic IV III Cystic III IV Dysplastic II Clubfoot + antecurvation of tibia V: Pseudoarthrosis of fibula without nonunion of tibia VI: Intraosseous neurofibromatosis Table 35.6 El-Rosasy-Paley classification of CPT Type I Type II Type III Bone ends on x-ray Atrophic (thin) Atrophic (thin) Hypertrophic (wide) Motion of pseudoarthrosis Mobile Mobile Stiff Previous surgery No Unsuccessful surgery Yes or no G.A. Hosny et al. 530 35.4.6 Treatment 35.4.6.1 Nonoperative Treatment Treatment with cast immobilization can be applied to very young children with mild deformity. Nonsurgical treatment also delays the age for surgical treatment. Thus, intramedullary fixation is made of a larger rod, and a greater amount of autologous grafts can be used. Using protective brace including a total-contact ankle-foot orthosis (AFO) or knee-ankle-foot orthosis (KAFO) before walking age postpones the fractures in cases with bowing and restricts deformities in cases with pseudoarthrosis [81]. 35.4.6.2 Operative Treatment CPT gets worse without treatment; deformity and shortness are unavoidable. The best treatment methods are intramedullary nailing method, vascularized fibula graft, Ilizarov method, or combined treatment. In this chapter, we will mention about combined treatment including Ilizarov method, intramedullary nailing, and periosteal grafting. Ilizarov method was shown to be the best surgical technique by EPOS in 2000, in a multicenter study which was done with 340 patients, because of protecting the bone length and alignment and its ability of lengthening with bone segment transport [82]. Also best results are reported in a multicenter study which was done in Japan with 73 patients who have undergone Ilizarov technique and vascularized fibula transfer [80]. Recurrent fractures may occur due to axial residual deformity after treatment with Ilizarov method. Intramedullary fixation should be applied with the Ilizarov method to avoid this complication [83]. The extent of resection is not defined in the literature. Limit of resection is determined macroscopically by evaluating the bone and intramedullary space during the operation. MRI plays an important role to determine fibrous hamartoma, periosteum, bone lesions, and the extent of bone and soft tissue to be resected [77]. The state of the child’s family, age, the type and localization of pseudoarthrosis, and timing of the surgery must be kept in mind while deciding on surgical indications. EPOS recommends surgical treatment after 3 years of age to avoid difficulty in stabilization of small bone fragment in young children [82]. The best results are reported with Ilizarov technique between 6 and 9 years old in EPOS. Between 3.5 and 7 years of age, treatment with vascularized bone transfers has good results [84]. A successful bone healing is concerned with type of pseudoarthrosis and choice of the surgical technique rather than age. There is no gold standard therapy for all CPT cases today. There are two main difficulties about treatment: 1. Mechanical difficulty in fixation and stabilization of small, osteoporotic bone fragments 2. Biologic problem because of hamartomatous change of the periosteum Preoperative planning must be made to solve these problems. Surgical technique should be decided according to the type of pseudoarthrosis and size of the defect. If the shortness is little in normal and hypertrophic types, Ilizarov or intramedullary nailing with bone graft can be applied. Controversy is often concerned with which method will cause significant bone loss in atrophic form. In this situation, vascularized fibula and Ilizarov method with bone transport are better options. 35.4.7 Ilizarov Technique The first user of Ilizarov method in CPT is Ilizarov himself. External circular fixation enables us to use a lot of combinations which can be adopted to the type of pseudoarthrosis. Small bone fragments can be stabilized, and limb length discrepancy can be treated with the same procedure. External fixation could be extended to the foot according to anatomic location of pseudoarthrosis. Ilizarov method includes direct compression or progressive compression depending on the amount of excised dead bone in pseudoarthrosis zone. If the amount of excised bone is little, direct 35 Congenital Lower Limb Deformities a 531 b Fig. 35.36 Drawing incision (a) and determining the resection area under fluoroscopy (b) compression is enough. If a lot of dead bone is excised, progressive compression with segmental bone transport is required for healing and lengthening [85]. In order to support healing, simple OsteoGen bone graft, inter-tibiofibular bone grafting, or a periosteal graft could be applied in the same procedure or in the second stage [83]. Recently, bone morphogenetic protein (BMP) is another option for graft [86]. Complications of Ilizarov method are recurrent fractures, persistent axial deformities, and pin tract infection. It is offered to add intramedullary fixation to external fixation to decrease the rate of axial deformity and recurrent fracture [72]. Hemiepiphysiodesis or tibial osteotomy may be necessary to treat ankle valgus deformity caused by growth disturbance or persistent pseudoarthrosis of the fibula [87]. Paley defined a technique using periosteal free graft as a source of osteoprogenitor cells in the periosteum from the iliac wing. This technique includes completely excising the diseased periosteum in pseudoarthrosis zone and wrapping with periosteum graft after filling it with bone graft and then external fixation together with intramedullary fixation of the tibia and fibula [88]. 35.4.8 Operation Technique The patient is prepared by putting a pillow under the hip so as to make the whole lower extremity and iliac crest stay open at the radiolucent table. Sterile tourniquet is performed. The pseudoarthrosis area is opened through an anterior longitudinal incision for type 1 CPT. A transverse incision is used for type 2 CPT (Fig. 35.36a, b). Thick periosteum is incised longitudinally at proximal and distal until normal periosteum is seen. Hamartomatous periosteum around the pseudoarthrosis site is excised after dissecting circumferentially. During dissection of the fibrous tissue hamartoma, posterior tibial neurovascular bundle and anterior tibial artery must be paid attention to. Proximal and the distal segment of the tibia is shortened by osteotomy to avoid fracture after multiple drilling. The same procedure is applied to fibular pseudoarthrosis. Proximal and distal segments of the medulla are opened by drilling. The bone ends are brought into contact with each other. In type 1 CPT, minimal resection is adequate to vitalize the bone ends. However, more bone resection is required in type 2 CPT. Opening the tourniquet and looking at the bleeding in the bone suggest the border of dead bone to be resected. If the bone defect is more than 3 cm after dead bone tissue resection, bone transportation is performed with Ilizarov type of external fixation by making the proximal tibial osteotomy, and defect is eliminated gradually in CPT type 2. After lengthening is completed, periosteal bone graft is applied to pseudoarthrosis. Intramedullary rod (Paley G.A. Hosny et al. 532 modified nail) is placed when the tibia is healed at both sides and external fixator is removed. If the bone defect is less than 3 cm after the removal of the dead bone at the pseudoarthrosis area, bone fragments are brought end to end by making acute resection. Osteotomy is performed at the proximal metaphyseal area for lengthening, and intramedullary rod is placed simultaneously. Intramedullary nail including K-wire, Steinmann nail, Rush Pin, or flexible titanium nail is chosen according to diameter of the bone and age of the patient. This rod is applied from distal to proximal above the medial malleolus or from proximal to distal at the proximal tibial metaphysis. Recently, Paley has modified FassierDuval telescopic intramedullary nailing. In this modification, the nail can be locked with K-wire at the distal tibial epiphysis to avoid ankle joint stiffness to allow elongation of the nail during growth (Graphic 35.1). For taking periosteal graft and autogenous graft, an incision is made on the iliac crest (Fig. 35.37a). The iliac crest apophysis is split in the middle to expose the inner table of the iliac wing bone and medial periosteum. Medial periosteum is separated from the underlying iliacus muscle and removed in the form of a rectangle with a blade (Fig. 35.37b). The cancellous bone is taken from the ilium at the same time. As soon as the periosteal graft is taken, it immediately shrinks. The periosteal graft is meshed to restore its size by using skin graft table (Fig. 35.37c). Suture is placed at both ends of the periosteal graft to easily wrap around the bone. Periosteal graft is wrapped around pseudoarthrosis with its Treatment algorithm according to Paley classification Type 2: Type 1 Proximal tibial and distal fibular fragments are longitudinally cleavaged and invaginated end to end. Fixation with IM rod into the tibia and fibula. It depends on bone defect after debridement of pseudoarthrosis If bone defect is < 3cm If the bone defect is >3cm -Acute shorthening and proxiamal lengthening osteotomy -Partial acute shorthening and proximal lengthening osteotomy - Application of ilizarov external fixator and beginning bone transport Type 3 - Application of preconstructed ilizarov external fixator after preoperative analysis of deformity - Pseudoarthrosis area is not opened. - Gradual shorthening until bone contact at distal. - If the fibula is intact, make osteotomy of fibula. Wrapping iliac periostal graft around the pseudoarthrosis area and putting autogenous graft. - Gradual correction of the deformity. - Fixation with IM rod after compression of pseudoarthrosis. - Wrapping iliac periostal graft around the pseudoarthrosis area and putting autogenous graft Application of ilizarov external fixator and compression of the pseudoarthrosis Graphic 35.1 Treatment algorithm of CPT according to Paley - After correction, begin compression of pseudoarthrosis. - After healing, take off eternal fixator and apply IM rod to prevent refracture. 35 Congenital Lower Limb Deformities 533 a b c d Fig. 35.37 Taking the periosteum graft from the iliac crest (a, b), preparing (c), and placing it on the pseudoarthrosis field (d) cambium layer toward the bone (Fig. 35.37d). Cancellous bone graft is placed like greenstick ring all around bone at the pseudoarthrosis area. Remained periosteum and bone graft are placed to the fibular area. Recently, BMP-2 is applied to the pseudoarthrosis area in addition to autogenous graft. The wound is closed in layers. After closing the wound, a two-ring pediatric Ilizarov external fixator is applied for type 1 CPT. A foot ring is added to control the foot position. The frame is fixed to the bone with three proximal K-wires (two of them are olive, and one of them is straight) placed to proximal metaphysis and three wires placed to distal metaphysis. These wires should not have contact with intramedullary nail. A walking ring is applied not to give full load at the postoperative period. Three-ring frame is applied for both lengthening and compression of pseudoarthrosis in type 3 CPT (Fig. 35.38a–d). Follow-up protocol: Patients are invited for control once a month until healing and once a year until skeleton maturation is complete (Fig. 35.39a–d). 35.4.8.1 Evaluation of Results Follow-up until skeletal maturation is required to evaluate the result of treatment in CPT. Johnston’s postoperative evaluating method can provide an objective comparison in different series [89]. At this evaluation: Stage 1: Complete union and complete function when bearing full weight. Mild malalignment (≤10° in the coronal or sagittal plane) or limb length discrepancy (≤3 cm) does not require secondary surgery and affect the outcomes. Stage 2: Incomplete union (transverse or longitudinal cortical defect in union) but function is good. Protective brace is needed to prevent refracture. Sagittal deformity (>15° of valgus, procurvatum or recurvatum) is present. Secondary surgery is required. Stage 3: Recurrent fracture occurs or persistent pseudoarthrosis is present. G.A. Hosny et al. 534 a c b d Fig. 35.38 After resection of the pseudoarthrosis area, insertion of intramedullary nail and application of circular external fixator. Radiological (a, b) and clinical (c, d) views of the patient 35 Congenital Lower Limb Deformities 535 a c b d Fig. 35.39 Radiological (a, b) and clinical (c, d) view of the patient after healing 536 35.4.9 Complications It must be primarily emphasized that the patients with diagnosis of NF-1 must be followed up in terms of complications in NF-1. The most common complications are as follows: • Ankle valgus: Proximal migration of lateral malleolus causes firstly tibiotalar valgus instability and then asymmetric growth. Treatment consists of epiphysiodesis of medial malleolus or supramalleolar osteotomy [74]. Distal tibiofibular synostosis to prevent this deformity is another option during primary surgery. • Leg length discrepancies: The reason may be the disease itself or iatrogenic. If the length difference is less than 5 cm, treat with epiphysiodesis of the other side. 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