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Tibial/femoral hypoplasia with "hook" pelvis: a potentially unique dysostosis.

作者信息

Mégarbané André, Ghanem Ismat

机构信息

Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon.

出版信息

Am J Med Genet. 2002 Nov 1;112(4):394-6. doi: 10.1002/ajmg.10684.

DOI:10.1002/ajmg.10684
PMID:12376943
Abstract

We report a 2-year-5-month-old girl with malformed lower limbs. The radiographic skeletal survey revealed agenesis of the ilio-pubic rami with pubic dehiscence, right hip dislocation, bilateral coxa vara, short femurs, femoro-tibial synchondrosis, bilateral hypoplastic tibiae more severe on the left side, and hypoplastic left calcaneus and talus. To the best of our knowledge, this combination of multiple congenital skeletal abnormalities has not been reported before.

摘要

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Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb.下肢发育不全的流行病学、病因学及遗传学方面
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