Proximal femoral focal deficiency associated with fibular duplication and diplopodia and complete agenesis of the tibia: a case report

A 14-year-old boy reported with congenital deformity of the left lower limb, with gross shortening, hip and knee flexion deformities, ankle with equinus deformity, and polydactyly of the left foot. Radiologic examination showed proximal femoral focal deficiency, double fibula, and duplication of the tarsal bones, and a diagnosis of ‘proximal femoral focal deficiency associated with fibular duplication and diplopodia with complete agenesis of tibia’ was made. Such association of deformities is very rare and poses difficulties in rehabilitation of the case. This patient was managed with elective knee disarticulation, early prosthetic fitment, and gait training.