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- Title
Prenatal diagnosis of unilateral proximal femoral focal deficiency at 19 weeks' gestation: case report and review of the literature.
- Authors
Mailath-Pokorny M; Timor-Tritsch IE; Monteagudo A; Mittal K; Konno F; Santos R; Mailath-Pokorny, M; Timor-Tritsch, I E; Monteagudo, A; Mittal, K; Konno, F; Santos, R
- Abstract
Proximal femoral focal deficiency (PFFD) represents a rare and complex deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. The condition may be unilateral or bilateral and is often associated with other congenital anomalies. Recent technological advances in ultrasound imaging offer the opportunity to detect an increasing number of rare skeletal malformation syndromes whose correct diagnosis is essential for adequate counseling and management of the pregnancy. We report a case of fetal non-familial PFFD diagnosed prenatally using two-dimensional and three-dimensional images. Clinical findings, differential diagnosis and management of this rare skeletal dysplasia are discussed and a review of the recent literature is given.
- Publication
Ultrasound in Obstetrics & Gynecology, 2011, Vol 38, Issue 5, p594
- ISSN
0960-7692
- Publication type
journal article
- DOI
10.1002/uog.8995