A case with proximal femoral focal deficiency and fibular hypoplasia

Description: A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies. The Turkish Journal of Pediatrics 2006, Volume 48, Number 4, Page(s) 380-382
Proximal femoral focal deficiency is a rare malformation of the lower limbs that involves the femur and acetabulum in varying degrees. It may occur with or without fibular hemimelia and can be unilateral or bilateral in presentation[8]. FAH covers a spectrum of malformations including variable degrees of FAH, shortening of the tibia and femur, genu valgum and lateral femoral condyle hypoplasia, knee ligament laxity, tibial bowing, ball and socket ankle joint, tarsal coalitions and missing lateral rays of the foot[9]. In the case presented, anomalies on the left side included hypoplasia of the proximal femur, fibular aplasia, tibial hypoplasia, aplasia of the distal femoral epiphyses, talar aplasia and oligosyndactyly. Some additional features and malformations have been defined associated with congenital limb deficiency including facial, gastrointestinal, urogenital, cardiac, and diaphragmatic anomalies