Proximal Femoral Focal Deficiency – An Uncommon Congenital Anomaly: Case Report and a Review of the Literature

Abstract

Background: Proximal femoral focal deficiency (PFFD) is a rare congenital skeletal abnormality that may be associated with other bone defects. The incidence varies between 1 case per 50,000 people and 1 case per 200,000 people. PFFD is bilateral in 15% of cases [1]. In people with PFFD, the proximal femur is partially absent, but the distal femoral portion is always present, which serves to distinguish this phenomenon from the entire femoral deficiencies when the whole organs are usually shortened. Identifying these abnormalities on radiographs may aid in the management of these cases because early treatment may help ensure adequate femoral growth. This case report sheds light on this intriguing anomaly, offering an idea of the evaluation of Proximal Femoral Focal Deficiency.