Congenital Fibular Deficiency

Review Article

Congenital Fibular Deficiency Abstract Reggie C. Hamdy, MD, MSc, FRCSC Asim M. Makhdom, MD, MSc (C) Neil Saran, MD, MHSc (Clin Epi), FRCSC John Birch, MD, FRCSC

From the Division of Orthopaedic Surgery, McGill University, Montreal, Quebec, Canada (Dr. Hamdy, Dr. Makhdom, and Dr. Saran), the Department of Orthopaedic Surgery, King Abdulaziz University, Jeddah, Saudi Arabia (Dr. Makhdom), and the Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas and Texas Scottish Rite Hospital for Children, Dallas, TX (Dr. Birch). Dr. Hamdy or an immediate family member serves as a board member, owner, officer, or committee member of the Limb Lengthening and Reconstruction Society. Dr. Saran or an immediate family member has received research or institutional support from DePuy. Dr. Birch or an immediate family member has received royalties from Orthofix. Neither Dr. Makhdom nor any immediate family member has received anything of value from or has stock or stock options held in a commercial company or institution related directly or indirectly to the subject of this article. J Am Acad Orthop Surg 2014;22: 246-255 http://dx.doi.org/10.5435/ JAAOS-22-04-246 Copyright 2014 by the American Academy of Orthopaedic Surgeons.

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Congenital fibular deficiency (CFD) is characterized by a wide spectrum of manifestations ranging from mild limb length inequality (LLI) to severe shortening, with foot and ankle deformities and associated anomalies. The etiology of CFD remains unclear. Treatment goals are to achieve normal weight bearing, a functional plantigrade foot, and equal limb length. The recent Birch classification system has been proposed to provide a treatment guide: the functionality of the foot, LLI, and associated anomalies should be taken into account for decision-making. Treatment options include orthosis or epiphysiodesis, Syme or Boyd amputation and prosthetic rehabilitation, limb lengthening procedures, and foot and ankle reconstruction. The outcome of amputation for severe forms of CFD has shown favorable results and fewer complications compared with those of limb lengthening. Nevertheless, advances in the limb lengthening techniques may change our approach to treating patients with CFD and might extend the indications for reconstructive procedures to the treatment of severe LLI and foot deformities.

A

lthough rare, congenital fibular deficiency (CFD), also called fibular hypoplasia and fibular hemimelia, is the most common congenital long bone deficiency, with an approximate incidence of 7.4 to 20 per 1 million live births.1 The clinical presentation of CFD represents a broad spectrum of manifestations, ranging from mild fibular deficiency with limb length inequality (LLI) to a significantly short limb with foot and ankle deformities.2-5 Patients may have other anomalies in the hip and in the lower and upper extremities.6-8 Because of the wide spectrum and pattern of this disorder, Stevens and Arms8 have proposed using the term postaxial hypoplasia rather than fibular hypoplasia or fibular hemimelia. Successful management of CFD aims to restore functional lower limbs. Although the management of mild CFD is generally straightforward, the

treatment of severe forms is controversial; several authors9-11 advocate early amputation of the foot and prosthetic rehabilitation, whereas others12,13 recommend limb salvage.

Etiology The etiology of CFD remains unclear. Most cases are sporadic; however, chromosomal anomalies and autosomal dominant, autosomal recessive, and X-linked transmission have been reported.6 Graham14 suggested that exogenous vascular or mechanical interference with limb bud function on the embryonic apical ectodermal edge might lead to CFD. Hootnick et al15 documented angiographic abnormalities of the vasculature in three patients with CFD. These abnormalities included persistence of the embryonic vascular pattern, failure of formation of the plantar arch, absence of the anterior tibial artery or

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Figure 1

AP radiograph of the right foot of a 15-year-old boy demonstrating foot deficiency of multiple rays.

absence of the normal trifurcation of the popliteal artery at the level of the knee, and the presence of one large posterior artery in the leg. Lewin and Optiz6 introduced the theory of developmental fields defect, in which the fibula is hypothesized to control the development of the lateral foot rays, anterior cruciate ligament (ACL), patella, proximal femur, acetabulum, and pubic bone, and the tibia controls the development of the hallux and distal femur. A developmental defect in the fibular field will result in fibular deficiency and may affect the other field components, as seen in patients with CFD. Although CFD has historically been considered to be a lateral deficiency, Hootnick16 has argued that CFD is, in fact, a midline defect, based on the dissection of four foot specimens of congenitally short-limbed patients (Figure 1). April 2014, Vol 22, No 4

Figure 2

Skeletal diagram of a 13-year-old child demonstrating the associated anomalies of congenital fibular deficiency.

Clinical Features CFD is usually apparent at birth and can vary from mild limb inequalities and asymmetry to severe shortening, with a wide range of associated anomalies (Figure 2). Bilateral involvement is not uncommon, with a reported prevalence of 9% to 52%.3,6,9,11,17-19 The incidence of CFD appears to be predominant in males (male: female ratio, 2:1). However, in some reports, the incidence of CFD is more common in females.3,6,8,9,17-20 The patient’s history should include a detailed history of pregnancy, including such factors as smoking and the use of alcohol and any teratogenic medications. The history of labor and birth, developmental milestones, associated anomalies, and family history, including congenital orthopaedic conditions, should be

obtained. A thorough physical examination is warranted to assess the involved limb and to look for associated anomalies. Most patients with a complete CFD present with anterior or anteromedial bowing of the tibia; half of these patients typically have a skin dimple at the apex of the deformity (Figure 3). Sixty percent of patients with complete CFD have a palpable posterior band (ie, fibular anlage), representing a fibrocartilaginous fibular remnant.7,17 This anlage produces tethering effects that lead to tibial bowing. Upper extremity involvement ranges from syndactyly to extensive deficiencies.3,17 Birch et al3 noted that patients with bilateral CFD have a higher incidence of upper extremity anomalies. Congenital shortening of the femur and proximal focal femoral deficiency

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Congenital Fibular Deficiency

Foot and ankle abnormalities include equinovalgus deformities (equinovarus is less frequent), missing feet rays, and ankle instability.9,24 Tarsal coalition in CFD has been reported,8,17,20,25 with talocalcaneal fusion being the most common type.17,25,26 Interestingly, tarsal coalition was found to be more frequent in children with missing lateral foot rays than in those with normal feet.26 In older children, spherical articulation between the talus and tibia (ie, ball-and-socket ankle deformity) may be seen.7,8 The etiology of this deformity remains unclear, with some authors27 suggesting that it is congenital in origin, whereas others28 feel that it is an adaptive change secondary to the tarsal coalition.

Figure 3

Clinical photographs of a 13-month-old boy with a 15% limb length inequality. A, Front view demonstrating typical findings associated with congenital fibular deficiency, including a shortened femur, shortened tibia, skin dimple over the bow of the tibia, and deficient foot rays. B, Side view demonstrating anterior tibial bowing. (Photographs courtesy of Charles E. Johnston, MD, Dallas, TX.)

Table 1 Achterman and Kalamchi17 Classification System for Congenital Fibular Deficiency Type IA

IB

II

Description Fibula is present. Proximal fibular epiphysis is distal to the level of the tibial growth plate. The distal fibular growth plate is proximal to the dome of the talus. Partial absence of the fibula. The fibula is absent for 30% to 50% of its length proximally. Distally, the fibula is present but does not support the ankle. Complete absence of the fibula

are widely recognized anomalies associated with CFD.3,7,8,20 These anomalies will add to the overall LLI. The magnitude of femoral shortening and the severity of fibular deficiency do not appear to correlate.17,18 Distal lateral femoral hypoplasia is reported in up to 93% of patients with CFD.20 Knee abnormalities include genu valgum, ACL deficiency, patella alta, and hypoplastic patella.5,8 Roux and Carlioz21 reported in a case series that 95% of 69 patients had ACL

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deficiency and that 60% had posterior cruciate ligament deficiency. Interestingly, only 16% of these patients reported instability symptoms. Several authors have postulated the presence of adaptive stabilizers.1,22,23 Based on arthroscopic findings of four patients with CFD, Gabos et al22 found that CFD patients with ACL deficiency had a hypertrophied ligament of Humphrey; the authors hypothesized that this ligament may contribute to the stability of the knee.

Classification Several classification systems have been proposed, including those of Achterman and Kalamchi17 (Table 1), Letts and Vincent,29 Coventry and Johnson,2 and Stanitski and Stanitski.18 However, most of these classifications are anatomic and based on radiographic features. Although they are useful descriptive classifications, they provide limited guidance in terms of prognosis and treatment. Recently, Birch et al3 proposed a new classification system that takes into consideration the functionality of both the foot and the upper extremities as well as the percentage of LLI.3 It consists of two categories based on the functionality of the foot: type 1, in which the foot is preservable, and type 2, in which the foot is not preservable. The preservability of the foot is based on the number of foot rays present. At least three rays should be present for a foot to be considered as salvageable, whereas those with fewer than three rays are considered nonsalvageable. Furthermore, type 1 fibular hemimelia is subdivided into four groups based on the percentage of overall

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Figure 4

Algorithm illustrating the proposed management guidelines of Birch et al3 for congenital fibular deficiency. LLI = limb length inequality

LLI compared with the contralateral side: type 1A, none to ,6% overall shortening; type 1B, 6% to #10% overall shortening; type 1C, 11% to ,30% overall shortening; and type 1D, $30% overall shortening. Type 2 fibular hemimelia is subdivided into two groups based on the functionality of the upper extremities: type 2A, functional upper extremities, and type 2B, nonfunctional upper extremities. Birch et al3 outlined a treatment guide with regard to each group in the classification scheme (Figure 4). The authors acknowledged that, in regard to decision making, surgeons and family must all be involved in the treatment plan; they further emphasized that not all five-rayed feet should be preserved, and not all tworayed feet should be ablated.3

Imaging Typically, the diagnosis of CFD is made after birth. However, prenatal ultrasonographic diagnosis has been reported.30 The mainstay of diagnosis, April 2014, Vol 22, No 4

in addition to clinical findings, is plain radiography. Plain radiographs of the tibia and fibula can demonstrate tibial bowing and partial or complete absence of the fibula (Figure 5). If the fibula is present, the proximal fibular epiphysis might be distal to the tibial growth plate, and the distal fibular growth plate might be proximal to the dome of the talus.17 However, Searle et al4 identified 14 patients (16 limbs) who had had clinical findings of CFD with radiographically normal fibula. The authors suggested that these patients represent a mild subset of CFD. AP radiographs of the lower extremities are warranted to evaluate associated limb pathologies, including acetabular dysplasia, proximal femoral deficiency, distal hypoplastic lateral femoral condyle, and malalignment of the lower limbs. Roux and Carlioz21 reported that plain radiographs might demonstrate an absent tibial spine in 92% of patients with CFD who had ACL deficiency. In addition to looking for associated anomalies, the AP radiographs, with blocks to accommodate the LLI, enable evaluation and quantification

of the LLI. CT scanography is another reliable method used to quantify LLI. MRI is a useful modality to evaluate knee abnormalities only in patients with symptomatic instability. MRI is also useful to assess for both intraarticular and extra-articular knee pathology. Common findings are an absent ACL, absent menisci, attenuated muscles, and absent muscles.31 MRI or ultrasonography of the feet can also be beneficial for diagnosing tarsal coalitions. Grogan et al25 dissected 26 feet known to have CFD, proximal focal femoral deficiency, or both. Of these, 54% had tarsal coalitions upon dissection, only 15% of which were detected on preoperative radiographs. Plain radiography likely underdiagnosed these coalitions because they were completely cartilaginous or fibrous in nature.7,25 However, MRI is rarely indicated unless some form of reconstruction for these coalitions is planned.

Management Goals Treatment of CFD is challenging. The primary problems in CFD are the LLI,

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Congenital Fibular Deficiency

Figure 5

be individualized for each patient. A multidisciplinary team, including the surgeon, occupational and physical therapists, orthotist, prosthetist, social worker, and pediatric psychologist, can be beneficial.

Management of Limb Length Inequality Orthosis and Epiphysiodesis

Lateral right tibial radiograph demonstrating complete absence of the fibula and anterior tibial bowing in an infant with congenital fibular deficiency.

foot deformity, and ankle instability. The goals of management are to achieve normal weight bearing, normal gait, and equal limb length. In cases of bilateral CFD, the overall shortening of both limbs should be considered. Traditionally, management of CFD was based on the severity of the fibular involvement and LLI.2,17,29 This approach has changed. Stanitski and Stanitski18 and Birch et al3 have emphasized the critical importance of basing treatment on the functionality of the foot and the LLI; treatment should not be based solely on the fibular morphology and the degree of LLI. Furthermore, treatment should

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Optimal candidates for an orthosis typically are patients with mild forms of CFD, a functional plantigrade foot, and mild (,6%) LLI.3 These patients can be managed successfully with shoe lifts and foot orthoses. It is important to consider the predicted final LLI at skeletal maturity because timed contralateral epiphysiodesis may be performed to achieve limb length equality. Generally, in most patients with congenital limb anomalies, the percentage of LLI remains constant. Birch et al3 showed that 82.5% of patients with CFD follow a linear growth-inhibition pattern. However, because not all patients follow this pattern,32 an LLI prediction must be done with care. Nonetheless, the percentage of LLI can be used as a rough guide to estimating final LLI.

Limb Lengthening and Epiphysiodesis Versus Amputation The decision to manage patients with CFD by amputation or limb lengthening is a matter of debate. In general, patients with severe foot deformity (ie, three or more absent rays) and a predicted LLI of $30% at the age of skeletal maturity, or .5 cm of discrepancy at birth, are candidates for amputation and prosthetic rehabilitation;5,33,34 those with less severe foot deformities (ie, three or more present rays) and a predicted LLI of ,30% are candidates for limb lengthening procedures (Figure 6).

Foot preservation should be considered in all patients with nonfunctional upper extremities.3 Regardless of the choice of treatment, however, surgical intervention should be implemented when the patient is young (ideally at the beginning of walking age) in order to achieve good results and avoid complications.19,33,35,36 We have found that allowing the patient’s family to visit both reconstructive and prosthetic clinics is invaluable in enabling a more informed decision.

Amputation Both the Syme and Boyd amputation have been used widely to treat patients with CFD. Syme amputation is an ankle disarticulation performed without disturbing the distal tibial epiphysis in order to establish a flat surface that is covered by the heel pad.37 The disadvantage of this technique is that the heel pad can migrate posteriorly from the distal residual stump. However, many authors agree that this heel pad migration is not problematic for the patient and does not affect prosthetic fitting.33 Furthermore, longterm follow-up data have shown that patients who have undergone a Syme amputation were able to achieve their personal goals, were very functional, and did not differ from the norm in terms of occupational satisfaction, personal growth, and relationships with family members and peers.33 The Boyd amputation is also an ankle disarticulation, but in this procedure, the calcaneus is retained to be fused to the distal tibia.38 This technique prevents heel pad migration and can add to the overall limb length. Both types of amputation have advocates, and they are used interchangeably in many institutions.38 To avoid interference with the normal developmental milestones of the child, amputation should be performed at the time the child starts

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Figure 6

A 15-year-old boy with congenital fibular deficiency. The same patient as in Figure 1. A, Standing AP radiograph. The patient is standing on a 6-cm block under the right foot, documenting a total functional discrepancy of approximately 6 cm. Note the ipsilateral mild shortening of the femoral neck and shaft, valgus deformity of the right distal femur, tibial shortening, and disproportionate fibular shortening. B, Postoperative AP radiograph after medial distal femoral hemiepiphysiodesis. Note the medial bow of the midshaft tibia and the ball-and-socket ankle joint. C, Postoperative AP radiograph of the patient in a circular fixator for tibial lengthening. A proximal tibial osteotomy has been performed, with acute correction of the mild tibial valgus bow deformity. A small segment of fibula has been removed to prevent its premature consolidation. D, Standing AP radiograph after 1 year of tibial lengthening. There is small residual valgus deformity of the leg and leg length inequality.

attempts to walk (eg, by pulling himself or herself up to stand or by holding onto furniture).33 Timing the amputation in this way permits good prosthetic fitting by the time the child is walking without support. In some patients, the residual stump following amputation might be too short or deformed for satisfactory prosthetic fitting. In these instances, lengthening the residual stump or correcting the deformity might be considered. We have found that disApril 2014, Vol 22, No 4

cussing such cases with the prosthetist is beneficial in anticipating the patient’s personal adjustment following surgery. Fulp et al39 have advocated for the excision of the fibular anlage at the time of amputation in order to eliminate the tethering effect and prevent tibial bowing. They also have performed diaphyseal osteotomy in patients who had an existing bow in order to improve alignment and prosthetic fitting. However,

many authors do not advocate tibial osteotomy at the time of amputation; they feel that, when necessary, this problem can be dealt with by prosthetic adjustments. One major problem with amputation is that parents may be reluctant to approve such irreversible intervention. Letts and Vincent29 identified the reasons for apprehension as parental denial of the natural history of CFD, an acceptable foot appearance and shape at the time

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of decision making, and—most importantly—a desire for the child to participate in the decision-making process. Therefore, discussion with the parents is required to explain clearly the consequences of the amputation and the other treatment alternatives. Naudie et al9 suggested that surgeons explain to families that the amputation is a reconstructive procedure in this context and is not considered a failure of treatment.

Limb Lengthening Distraction osteogenesis has been used widely to lengthen and correct the deformities in patients with CFD. In severe cases, multiple lengthenings typically are required to achieve limb length equalization.9,34 Numerous lengthening strategies have been described.9,13,19,36 However, no sufficient data are available to establish the superiority of one strategy over another. In our experience, patients with CFD require at least two separate sessions of lengthening. The first session is performed when the limb length discrepancy reaches 5 to 6 cm; the second lengthening takes place during adolescence when the discrepancy reaches 7 cm. Interestingly, Griffith et al40 found no difference in the rate of complications between the first and second lengthenings. However, many authors agree that the rate of complications increases significantly when the limb segments are lengthened .15% to 20%.3,11,41 In some patients, a complementary contralateral epiphysiodesis might be required to lessen the LLI. Furthermore, a final lengthening can be performed at skeletal maturity to correct LLI prediction errors. In patients with complete absence of the fibula, some authors have emphasized the importance of early (ie, at the end of the first year of life) excision of the fibular anlage with the first session of lengthening.19,36 The

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anlage resection should minimize the tethering effect and therefore minimize the occurrence of tibial angulation.

Treatment of Genu Valgus It was noted that two factors correlate to the degree of genu valgum: the degree of distal lateral femoral hypoplasia and the tibial angulation (ie, apex anterior and medial).42 These factors increase the compressive loads on the lateral knee compartment. According to the HeuterVolkmann principle, compression forces at the physis can cause physeal growth inhibition.43 Thus, more severe angular deformity leads to greater compression and therefore more inhibition of growth. The genu valgus deformity in these patients interferes with the normal gait pattern and causes problems with prosthetic fitting for those who undergo amputation. Treatment is based on the severity of the deformity. Distal medial physeal stapling of the femur or proximal tibia can be performed for mild deformities; patients with a tibiofemoral angle .15° can be managed with distal femoral or proximal tibial osteotomies.42 However, high recurrence rate of the deformity was reported after the osteotomy when the procedure was performed outside the setting of limb lengthening.42 Therefore, it is recommended that osteotomies be done after the age of skeletal maturity or be done to correct the deformities simultaneously with lengthening procedures. Angular deformities of the knee also can occur in patients with CFD who were treated by amputation. The etiology of these deformities is unknown; the cause might be secondary to the abnormal load on the proximal tibial growth plate as a result of the HeuterVolkmann principle.44 In such circumstances, hemiepiphysiodesis of the proximal tibial physeal growth plate provides reliable correction.45

Treatment of Knee Instability Knee instability in patients with CFD is mainly related to the congenital absence of the ACL.21,23 Because most of these patients have no symptomatic reports of instability of the knee, many authors suggested that ACL reconstruction in these patients is unwarranted.1 Interestingly, Crawford et al1 objectively reassessed the long-term outcome for patients who had had deficient ACLs and found no significant difference in Medical Outcomes Study 36-Item Short Form scores compared with the age-matched group. The authors noted that these patients have very functional lives and that most of them were engaged in demanding sporting activities, such as skiing, baseball, and football. Nevertheless, ACL reconstruction has been reported for these patients. Gabos et al22 reconstructed four symptomatic patients after skeletal maturity by using tendon allograft and interference screw fixation; these authors reported good outcomes on short-term follow-up. In our opinion, the management of the deficient ACL should be based on patient symptoms and functional demand. It is critical to be aware that most patients with CFD have a deficient ACL and that close monitoring is required when lengthening limbs with unstable joints.

Foot and Ankle Reconstruction The absence of the lateral fibular malleolus, tight lateral fibular anlage, tight Achilles tendon, and wedgeshaped distal tibial epiphysis results in a lack of posterolateral hindfoot support and contributes to equinovalgus deformity of the foot and ankle instability in patients with CFD.17,37,46 These anatomic abnormalities worsen significantly and become problematic

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in patients who undergo limb lengthening.10,13,46 Many surgical procedures have been described to achieve a plantigrade foot with a stable ankle joint. Soft-tissue balancing with reconstruction of the lateral malleolus by free bone grafts has been reported.47 However, this technique is limited because the transplantation grafts fail to grow as the child grows; therefore, deformity recurs. Transplantation of vascularized fibular head graft from the contralateral side has also been reported.48 However, the morbidity of the normal (ie, donor) side was considered a major limitation of this technique. Thomas and Williams47 described a longitudinal oblique tibial split (ie, Gruca procedure) done to provide the talus a lateral buttress. The drawback of this procedure is the potential growth arrest of the distal tibial physis. In a case report, Weber et al49 described the use of triangular iliac crest graft implantation with annexing apophysis and gluteal fascia to cover the lateral talus. This implantation was fixed by a circular fixator; at 2-year follow-up, the patient had good results. However, none of these techniques addressed the problem of the wedgeshaped distal tibial epiphysis until Exner50 described an osteotomy of the distal tibial metaphysis performed to bend the posterolateral third of the distal tibial epiphysis, thus forming a concave distal tibial joint surface. On short-term followup, the three patients who were treated with this technique had plantigrade feet with stable ankles. Recently, El-Tayeby and Ahmed51 have shown that posterolateral softtissue release of the ankle, excision of the fibular anlage, division and realignment of the talocalcaneal coalition (when present), and advancing the cartilaginous fibular anlage distally, followed by fixing it to the tibia with two Kirschner wires, can recreate the ankle mortise. All 13 April 2014, Vol 22, No 4

patients in their case series have shown favorable results on shortterm follow-up. In addition, many authors have suggested performing ankle arthrodesis as a last resort in these patients. Although some of these studies demonstrated good results in the short term, the long-term outcomes are not known and are difficult to predict. In our opinion, Syme or Boyd amputation should be considered the best available treatment of such patients. However, when the parents refuse this option, these reconstructive procedures may be considered as alternatives.

Outcomes and Complications Several studies have compared the long-term outcomes of amputation with those of limb preservation and lengthening.9-11,52 Walker et al52 in a retrospective review objectively evaluated those who had had amputation (36 patients) versus lengthening (26 patients) and found that children who had undergone amputation scored better on a job satisfiers content scale, had fewer days of hospitalization, and underwent fewer procedures. Choi et al10 and Naudie et al9 also noted that patients who were treated by amputation had lower readmission rates, fewer complications, and better function compared with those who underwent lengthening. McCarthy et al11 repeated these results in 25 patients who were treated either by amputation or lengthening. These studies, however, were limited by the heterogeneity between the comparison groups. This heterogeneity may be related to the wide range of clinical presentations in CFD patients; therefore, it might be difficult to provide matched-groups comparisons. Interestingly, however, these studies shared one common

finding: the patients who underwent amputation had had severe forms of CFD with foot deformities compared with those who underwent limb lengthening.9-11,52 In contrast, several authors have argued that recent improvements in limb lengthening techniques should be used as an alternative to amputation.19,35,53 El-Sayed et al19 showed favorable results by means of Ilizarov limb lengthening in a case series of 157 patients (180 limbs) who were classified as having Achterman-Kalamchi type II CFD. The authors’ opinion is that if the limb can be rapidly and reliably lengthened, then amputation should not be an option. Zarzycki et al53 suggested that, despite the high rate of complications, limb lengthening and foot deformity corrections might be an alternative to amputation. Gibbons and Bradish35 have achieved the desired limb lengthening and foot deformity corrections by using the Ilizarov method in 10 patients who had had severe forms of CFD. Miller and Bell12 repeated these results in 12 lengthenings. However, one major limitation of these studies is that no amputation group was included by which to make an objective comparison with the lengthening group in terms of functional outcome. Without doubt, the rate of complication associated with limb lengthening and the need for multiple procedures are limiting factors when compared with amputation (Table 2). Nevertheless, future advances in limb lengthening techniques might expand the indications for these reconstructive procedures.

Summary The goal of managing CFD is to achieve normal weight bearing and normal gait and limb length. Management should be based on the

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Congenital Fibular Deficiency A review of thirty years’ experience at one institution and a proposed classification system based on clinical deformity. J Bone Joint Surg Am 2011;93 (12):1144-1151.

Table 2 Reported Complications After Amputation or Limb Lengthening in Patients With Congenital Fibular Deficiency9,11,34,40,41 Procedure Syme amputation

Boyd amputation

Limb lengthening

Complications Posterior migration of the heel pad Reformation of the calcaneus (ie, painful stump) Wound infection Heel pad slough Fitting adjustment problems Delayed calcaneotibial fusion or nonunion Calcaneal migration and malalignment Wound infection Pin tract infections Peroneal nerve injury Tibial/femoral fractures Severe depression Nonunion of the osteotomy site Joint stiffness Joint subluxation Persistent or recurrence of knee and foot deformities Residual limb length inequality

percentage of LLI, the functionality of the foot, and the associated anomalies. Discussion with the parents of the patient is required to review the benefits and perceived drawbacks of available treatment options. Patients with nonfunctional feet are ideal candidates for Syme or Boyd amputation; those with functional feet are candidates for limb lengthening procedures. Limb preservation should be considered for those with nonfunctional upper extremities. Furthermore, limb lengthening and foot/ankle reconstruction procedures should be used as an alternative in those patients or for those families who refuse amputation. Genu valgus of the knee can be managed with stapling or distal femoral or proximal tibial osteotomies, or can be treated simultaneously with limb lengthening procedures. Tibial bowing can be corrected simultaneously if limb lengthening is planned; however, many authors do not advocate tibial osteotomy in patients who will be treated by amputation. Treatment of the knee instability is generally unwarranted and should be based on patient symptoms and functional demand. Finally, further advances in

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limb lengthening devices and techniques may change the treatment approach of patients with CFD and might extend the indications of the reconstructive procedures to treat severe LLI and foot deformities.

4. Searle CP, Hildebrand RK, Lester EL, Caskey PM: Findings of fibular hemimelia syndrome with radiographically normal fibulae. J Pediatr Orthop B 2004;13(3): 184-188. 5. Maffulli N, Fixsen JA: Management of forme fruste fibular hemimelia. J Pediatr Orthop B 1996;5(1):17-19. 6. Lewin SO, Opitz JM: Fibular a/hypoplasia: Review and documentation of the fibular developmental field. Am J Med Genet Suppl 1986;2:215-238. 7. Fordham LA, Applegate KE, Wilkes DC, Chung CJ: Fibular hemimelia: More than just an absent bone. Semin Musculoskelet Radiol 1999;3(3):227-238. 8. Stevens PM, Arms D: Postaxial hypoplasia of the lower extremity. J Pediatr Orthop 2000;20(2):166-172. 9. Naudie D, Hamdy RC, Fassier F, Morin B, Duhaime M: Management of fibular hemimelia: Amputation or limb lengthening. J Bone Joint Surg Br 1997;79 (1):58-65. 10. Choi IH, Kumar SJ, Bowen JR: Amputation or limb-lengthening for partial or total absence of the fibula. J Bone Joint Surg Am 1990;72(9):1391-1399. 11. McCarthy JJ, Glancy GL, Chnag FM, Eilert RE: Fibular hemimelia: Comparison of outcome measurements after amputation and lengthening. J Bone Joint Surg Am 2000;82(12):1732-1735.

References Evidence-based Medicine: Levels of evidence are described in the table of contents. In this article, references 9-11, 32, 40, and 52 are level III studies. References 1-5, 8, 12, 13, 1529, 31, 33-35, 37, 39, 41, 42, 44-47, 49-51, and 53 are level IV studies. References 6, 7, 14, 30, 36, 38, 43, and 48 are level V expert opinion. References printed in bold type are those published within the past 5 years.

12. Miller LS, Bell DF: Management of congenital fibular deficiency by Ilizarov technique. J Pediatr Orthop 1992;12(5): 651-657. 13.

Catagni MA, Radwan M, Lovisetti L, Guerreschi F, Elmoghazy NA: Limb lengthening and deformity correction by the Ilizarov technique in type III fibular hemimelia: An alternative to amputation. Clin Orthop Relat Res 2011;469(4): 1175-1180.

14. Graham JM Jr: Limb anomalies as a consequence of spatially-restricting uterine environments. Prog Clin Biol Res 1983;110(pt A):413-422.

1. Crawford DA, Tompkins BJ, Baird GO, Caskey PM: The long-term function of the knee in patients with fibular hemimelia and anterior cruciate ligament deficiency. J Bone Joint Surg Br 2012;94(3):328-333.

15. Hootnick DR, Levinsohn EM, Randall PA, Packard DS Jr: Vascular dysgenesis associated with skeletal dysplasia of the lower limb. J Bone Joint Surg Am 1980;62 (7):1123-1129.

2. Coventry MB, Johnson EW Jr: Congenital absence of the fibula. J Bone Joint Surg Am 1952;34(4):941-955.

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3. Birch JG, Lincoln TL, Mack PW, Birch CM: Congenital fibular deficiency:

Hootnick D: Midline metatarsal dysplasia is the Rosetta stone of embryonic dysvasculogenesis. Birth Defects Research Part A: Clinical and Molecular Teratology 2010;88(5):385.

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