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

Autor: Mariam Thalji, MD, Hakam Shrouf, MD, Fadi Dana, MD
Jazyk: angličtina
Rok vydání: 2025
Předmět:
Zdroj: Radiology Case Reports, Vol 20, Iss 2, Pp 933-936 (2025)
Druh dokumentu: article
ISSN: 1930-0433
DOI: 10.1016/j.radcr.2024.10.122
Popis: 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.
Databáze: Directory of Open Access Journals