Isolated unilateral proximal focal femoral deficiency: A case report and literature review

Abstract

Proximal focal femoral deficiency (PFFD) is a rare congenital anomaly resulting in distinct degrees of femoral hypoplasia and limb shortening. .We present a case of 20-month-old female child, presented with a history of right lower limb shortening from birth and a progressive deformity over time. Physical examination revealed a shortened, externally rotated, and flexed right lower limb. The right and left lower limbs measured 27 cm and 40 cm, respectively. A diagnosis of PFFD was established. Due to limited resources and a shortage of specialized orthopedics doctors 2QA, the patient was referred to a medical mission organization that could help in such cases. Though PFFD is a rare limb anomaly, it significantly impacts a patient's life, if left untreated. Timely diagnosis and early intervention in these cases would have significantly improved prognosis and health outcomes.