Proximal femoral focal deficiency: Case Report

Proximal femoral focal deficiency is a rare congenital skeletal abnormality that involves the femur and acetabulum. It is thought to result from an early disturbance of growing mesenchyme. The condition results in leg length discrepancy due to a shortened and hypoplastic femur. We report a case of a 4-day old male baby who presented with a history of shortened right lower limb from birth and in whom a plain x-ray of both lower limbs revealed a hypoplastic distal right femur. No other associated congenital anomaly was revealed. There is a need for early radiologic classification of proximal femoral focal deficiency for surgical planning and treatment.