Untill recently, major reduction defects of the tibia were treated by amputation and prosthetic fitting. However, Wada et al (1) and Weber (2) recently reported impressive results of limb reconstruction in children with tibial aplasia. If an attempt is being made to reconstruct the leg and foot, a clear understanding of the nature of anomalies is necessary. A retrospective study of case records and radiographs of children with congenital anomalies of the tibia seen at our centre was undertaken to determine the patterns of associated anomalies in the leg and foot. In addition, five amputated specimens of the leg and foot from children with complete tibial aplasia were dissected. A wide spectrum of congenital anomalies of the tibia was seen and this included complete aplasia, partial aplasia, hypoplasia, dyplastic trapezoidal tibia and congenital bowing. Complete and partial aplasia was seen either with or without duplication of the formed skeletal elements. The patterns of duplication that were seen included fibular dimelia, pre-axial mirror polydactyly, duplication of the calcaneum, cuboid and lateral cuneiforms. Trapezoidal dysplastic tibia was associated with duplication of the talus and pre-axial mirror polydactyly. Dissection of the amputated specimens of complete tibial aplasia revealed aplasia of some muscles, aberratant tendinous structures, abnormal insertion of muscles and absence of the plantar arterial arch. An understanding the nature of these associated anomalies in children with tibial aplasia and dyplasia will help the surgeon to decide the strategies for reconstruction of the limb if that is the desired option. At the other end of the spectrum of congenital anomalies of the tibia is posteromedial bowing which was considered an innocuous condition that required little or no treatment. A review of 20 cases of posteromedial bowing demonstrated that there are number of problems related to the leg, ankle and foot that may require surgical intervention

Tibial hemimelia is a rare congenital anomaly, occurring approximately in 1 per 1million live birth and consisting of aplastic/hypoplastic tibia with relatively intact fibula. The widely used classification was proposed by Jones and based on radiological description: type I: tibia absent, type II distal tibia not seen, type III proximal tibia not seen, type IV tibio-fibular diastases. This congenital deformity can be unilateral or bilateral and isolated, or unilateral or bilateral and associated with other malformation witch raise its genetic cause. We are reporting the cases of two monozigotic twins reflecting the “intragenotic” expression variability of the syndrome of tibial aplasia and ectrodactyly. The two monozigotic female twins are born after an unremarkable first pregnancy and delivery. Family history was positive for malformations.(syndactily, split hand, phocomelia(elbow) and hip dyspasia). Twin 1: Left leg: tibial aplasia type Ia, short femur, absent patella. Right leg: tibial aplasia type IV, clubfoot, hypoplasia of the internal ray. Left hand: split hand. Twin 2: Left leg: nornal. Right leg: tibial aplasia type II, clubfoot. Left hand: split hand. Most of the cases are unilateral and sporadic. 4 autosomal dominant tibial hemimelia syndromes are described. tibial hemimelia-foot polydactyly-triphangeal thumbs syndrome,. tibial hemimelia diplopodia syndrome,. tibial hemimelia-split-hand foot syndrome,. tibial hemimelia micromelia-oigonobrachycephaly syndrome. This is the first documennted case of monozigotic twins affected by the Tibial hemimelia-split-hand foot syndrome. Their clinical presentation demonstrates that the phenotypic manifestations are highly variable