Prenatal Detection of Proximal Femoral Focal Deficiency (PFFD) in Limited Resource Setting: A Case Report

资源匮乏地区近端股骨局灶性发育不全(PFFD)的产前检测:病例报告

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Abstract

Proximal femoral focal deficiency (PFFD) is a rare congenital skeletal malformation characterized by variable underdevelopment of the proximal femur. This report presents a 30-year-old, G4P3+0 woman with a pregnancy complicated by a fetus with left-sided PFFD with breech presentation and small-for-gestational-age features. Delivery was performed by elective cesarean section at 38 weeks showed a female neonate with confirmed unilateral PFFD affecting the left femur, classified as Aitken type D, with no associated congenital anomalies. The parents were referred for pediatric orthopedic, prosthetic, and rehabilitation counselling. This case highlights the importance of meticulous prenatal ultrasonography in detecting rare skeletal anomalies such as PFFD. Even in the absence of advanced imaging, 2D ultrasound can support timely diagnosis, parental counselling, and early multidisciplinary management to improve long-term functional outcomes.

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