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

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. Ph...

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Bibliographic Details
Main Authors: Mariam Thalji, MD, Hakam Shrouf, MD, Fadi Dana, MD
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:Radiology Case Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S1930043324012263
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Summary: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.
ISSN:1930-0433