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Reconstruction of Bilateral Tibial Aplasia and Split Hand-Foot Syndrome in a Father and Daughter

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Reconstruction of Bilateral Tibial Aplasia and Split Hand-Foot Syndrome in a Father and Daughter Access this article online Website: Technical Innovation www.afrjpaedsurg.org DOI: 10.4103/0189-6725.129201 PMID: *** Reconstruction of bilateral tibial aplasia Quick Response Code: and split hand-foot syndrome in a father and daughter Ali Al Kaissi1,2, Rudolf Ganger2, Klaus Klaushofer1, Franz Grill2 as peromelia and transverse hemimelia have been ABSTRACT reported.[1,2] Background: Tibial aplasia is of heterogeneous aetiology, the majority of reports are sporadic. Tibial hemimelia is characterised by partial or We describe the reconstruction procedures in complete absence of the bone. It usually occurs as a two subjects - a daughter and father manifested solitary anomaly or may be part of syndromic complex autosomal dominant (AD) inheritance of the bilateral tibial aplasia and split hand-foot syndrome. associations such as Langer-Giedion or tricho-rhino- Materials and Methods: Reconstruction of these phalangeal syndrome, tibial hemimelia-polysyndactyly- patients required multiple surgical procedures and triphalangeal thumb syndrome, Wolfgang-Gollop orthoprosthesis was mandatory. The main goal of syndrome or tibial agenesis-ectrodactyly syndrome.[3,4] treatment was to achieve walking. Stabilization of There were several classification systems applied such the ankle joint by fi bular-talar-chondrodesis on both as Kalamchi and Dawe,[5] Weber[6] and Jones et al.[7] sides, followed by bilateral Brown-procedure at the knee joint level has been applied accordingly. Believed that these earlier classifications were no longer Results: The outcome was with improved function useful for present-day requirements and suggested of the deformed limbs and walking was achieved a new classification reflecting the severity of the with simultaneous designation of orthotic fitting. morphology of the condition and the importance of any Conclusion: This is the fi rst study encompassing the cartilaginous anlage. diagnosis and management of a father and daughter with bilateral tibial aplasia associated with variable split hand/foot deformity without foot ablation. Our Major reduction defects of the tibia were treated by patients showed the typical AD pattern of inheritance amputation and prosthetic fitting. However, Weber[6] of split-hand/foot and tibial aplasia. reported impressive results of limb reconstruction in children with tibial aplasia. Key words: Orthoprothesis, reconstruction, split hand-foot-tibial aplasia syndrome Limb reconstruction consists of transferring the upper end of the fibula to the intercondylar notch of the femur INTRODUCTION and correcting the equinovarus deformity of the ankle by centralising the fibula into the talus. Furthermore, Bilateral tibial aplasia combined with split hand/split it may be necessary to ablate the foot and hence that foot deformity is a rare malformation. The preaxial the child becomes a below-knee amputee whose knee tibial deficiency may be limited to isolated hypoplasia joint needs external support.[5,9,10] of the halluces, but more severe limb deficiencies such CLINICAL REPORTS 1Department of First Medical, Ludwig Boltzmann Institute of Patient I Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre A 2-month-old girl was referred due to bilateral tibial Meidling, Hanusch Hospital, 2Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria aplasia associated with bilateral split hand-foot deformity [Figure 1]. Review of radiographs taken at birth showed; Address for correspondence: Dr. Ali Al Kaissi, right hand preservation of the thumb and index finger only Department of First Medical, Ludwig Boltzmann Institute of Osteology, and the left hand showed hypoplasia of the first and second Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, Hanusch Hospital, Vienna, Austria. fingers and aplasia of the third finger [Figure 2]. Lower limb E-mail: [email protected] radiograph showed severe flexion deformity and bilateral African Journal of Paediatric Surgery January-March 2014 / Vol 11 / Issue 1 3 Al Kaissi, et al.: Split hand/foot and Tibial aplasia club foot secondary to bilateral tibial aplasia [Figure 3]. The distal fibular epiphyses and from the proximal parts anomalies appeared to segregate as an autosomal dominant of the talus to approach for an optimal plantigrade (AD) trait. The expression of the phenotype was variable. position for the fibular-talar-chondrodesis. A shortening The father manifested bilateral tibial aplasia associated osteotomy of the fibular diaphyses fixed with K-wires with split foot and sparing the hands. (the chondrodeses were fixed with longitudinal K-wires above the knee cast) was mandatory. At the age of She was treated at age of 2 months by means of a 5-months a Brown-procedure was performed on the bilateral percutaneous tenotomy of the Achilles tendon right side on the lower limb the proximal fibula was preceded by a serial above-knee casts and followed by centralised to the femoral notch along with a shortening casting and bracing. Note that the right foot showed osteotomy of the femoral diaphysis fixed with a plate preservation of the big and fifth toe respectively and was a required procedure and the extensor apparatus the left foot showed aplasia of the third and fourth was reconstructed with the iliotibial band. In order toes [Figure 4]. At the age of 4 months and due to her to avoid posterior dislocation of the fibula a posterior simultaneous occurrence of bilateral tibial aplasia capsulotomy of the knee was carried out. In addition, and clubfeet, we performed bilateral correction. The a release of the peroneal nerve was carried on as well latter was achieved through a release of the connected to decrease tension. The position of the knee joint was distal parts of the fibulae with these of the talus and fixed with a K-wire and a cast, thereafter [Figure 5]. calcaneus by removing a piece of the cartilage from the Figure 1: A 2-months-old girl was referred because of bilateral tibial aplasia Figure 2: Right hand preservation of the thumb and index fi nger only and associated with bilateral split hand-foot deformity. She showed severe the left hand showed hypoplasia of the fi rst and second fi ngers and aplasia fl exion deformity and bilateral equinovarus deformity of the ankles. The of the third fi nger affected legs are rotated internally and the ventral surface of foot faces the opposite leg Figure 4: AP radiographs at age of 2 months of showed a bilateral Figure 3: Lower limb radiograph showed severe fl exion deformity and percutaneous tenotomy of the Achilles tendon preceded by a serial above- bilateral equinovarus deformity of the ankles secondary to bilateral tibial knee casts and followed by casting and bracing. Note that the right foot aplasia. The affected legs are rotated internally and the ventral surface of showed preservation of the big and fi fth toe respectively and the left foot foot faces the opposite leg showed aplasia of the third and fourth toes 4 January-March 2014 / Vol 11 / Issue 1 African Journal of Paediatric Surgery Al Kaissi, et al.: Split hand/foot and Tibial aplasia At the age of 6 months Brown-procedure was performed 3 months through centralisation of the distal fibula on the left side, albeit in a modified way, i.e., a to the talus head left side. At 2 weeks later, another shortening osteotomy of the femur was considered in centralisation (right side) of the distal fibula to the talus light of complete absence of the extensor apparatus. was performed. At the age of 2 years, Brown-procedure Therefore, centralization of the proximal fibula onto was applied to the left knee and similarly thereafter the femoral notch (we used iliotibial notch as a cruciate and at the age of 5-years Brown-procedure was applied ligament) a tunnel was drilled from the femoral notch to the right knee respectively [Figure 7]. Above knee towards the medial femoral condyle aiming to fix the orthoprothesis was designed for the father [Figure 8]. band. Simultaneously, the quadriceps muscle was reconstructed with a part of the iliotibial band. The DISCUSSION child could walk nicely using orthoprosthesis and a rollator [Figure 6]. Recently, her range of motion left The upper and lower limb buds appear 4 weeks after the knee S 0-0-75°, lack of extension right knee: S 0-40°- last ovulation from which an embryo has been developed. 130°. Plantigrade left foot, tendency to adduction on the The limbs form rapidly during the subsequent 3 weeks right side. A surgical correction of the hand deformity in a proximo-distal sequence hence that the upper arm is planned by our plastic surgeon. Family history and thigh appear before the forearm and leg and in showed a similarly affected father. The patient and her turn, before hand and foot. The mesenchymal tissue father underwent a series of investigations, including condenses into skeletal elements, which chondrify complete blood cell counts, urine biochemistry, alkaline followed by ossification and differentiation of joints. th phosphatase and chromosomal analysis, renal function By the 7 post-ovulatory week, the embryonic skeleton tests as well as tests, which aimed to test calcium, is well-formed. Any adverse factors that might affect phosphorus and vitamin D metabolism, were all normal. the development of the limbs are likely to have acted Hormonal investigations included thyroid hormones; between the third and seventh intrauterine week. adrenocorticotropic hormone and growth hormone were Ectrodactyly is a deformity in which there is congenital negative as well. absence of one or more of the second, third, or fourth rays.[10] Walker and Coldius[12] believe that there is a Patient II centripetal suppression of the developing hand plate. In the simplest form there is a cleft with no missing tissue. A 37-year-old man (the father of patient I) was born Progressively more severe deformity affects first the with bilateral tibial aplasia and split foot, though his middle and then the index ray, followed by successive hands were spared.
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