Split-Hand/Foot Malformation with Long Bone Deficiency 1

Congenital deficiency of the tibia (tibial hemimelia, aplasia, or dysplasia) also known as long bone deficiency is a rare and severe lower limb malformation, with an incidence of approximately 1:1,000,000 live births. It is characterized by lack of part or the entire tibia, with relatively intact fibula. Usually the affected leg is rotated externally and the ventral surface of the foot faces the opposite leg. The majority of the reports are sporadic cases; however apparent autosomal dominant and autosomal recessive families with or without ectrodactyly and other associated limb anomalies also have been reported. The phenotype has been classified into four types: type-I (entire tibia absent), type-II (distal tibia not seen), type-III (proximal tibia not seen), and typeIV (tibia-fibular diastases).