Literature DB >> 12376943

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

André Mégarbané1, Ismat Ghanem.   

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. Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 12376943     DOI: 10.1002/ajmg.10684

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb.

Authors:  Ismat Ghanem
Journal:  J Child Orthop       Date:  2008-04-09       Impact factor: 1.548

  1 in total

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