A rare case report of proximal focal femoral deficiency associated with fibular hemimelia

Proximal focal femoral deficiency (PFFD) is a rare congenital condition characterized by the partial or complete absence of the proximal femur, which can affect the hip joint and leg length. The severity of PFFD varies widely; some individuals may have significant limb shortening and malformation, while others may have a more functional limb. It is associated with various other osseous abnormalities, among which ipsilateral fibular agenesis or hemimelia is most frequently seen. We present an interesting case of a 28-year-old male with PFFD presenting with limb length discrepancy and describe the clinicoradiological features and associated abnormalities in this case. Our patient had hypoplastic left hemipelvis, markedly shallow and dysplastic left acetabulum, very small left femoral head which was not articulated with the femoral shaft and was displaced in a posterosuperior direction. In addition, a shortened femoral segment was noted, with the distal femoral condyle visible and a tapered proximal end. Absent left patella, fibular hemimelia with undeveloped proximal portion, heel valgus, and midfoot varus were also noted.