Proximal Focal Femoral Deficiency

  • Etiology: congenital defect in cartilage anlage of proximal femur
  • Imaging: hypoplasia / abscence of femoral head and femoral shaft with +/- acetabular dysmorphology leading to femur being short
  • Clinical: associated with congital coxa vara, absence of the patella, congenital knee ligamentous laxity / contracture, fibular hemimelia

Radiology Cases of Proximal Focal Femoral Deficiency

Radiograph of proximal focal femoral deficiency
Radiograph of the lower extremities shows an absent right femur and a deformity of the left femur.