Through-knee amputation for a patient with proximal femur focal deficiency and tibial hemimelia: surgical anatomy and clinical implications

Tibial hemimelia is a rare anomaly of unknown etiology. This condition can occur sporadically or may have a familial inheritance. It is characterized by deficiency of the tibia with a relatively intact fibula. The anomaly may be unilateral or bilateral. We report a case of a 2-year-old girl who presented with right lower limb deformity since birth. She was diagnosed with proximal femur focal deficiency with absence of the ipsilateral tibia. She presented with a shorter right lower limb and a deformed foot. She was treated with a through-knee amputation. Anatomical dissection of the amputated limb was carried out to verify the anomalies. The dissection showed that the distal phalanx of the great toe was trifid. The anatomical and clinical significance of this interesting case is discussed.