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Am J Perinatol 1998; 15(7): 403-407
DOI: 10.1055/s-2007-993966
ORIGINAL ARTICLE

© 1998 by Thieme Medical Publishers, Inc.

Prenatal Ultrasonography: Clinical and Radiological Findings in a Boy with Fibrochondrogenesis

André Mégarbané1 , Soha Haddad2 , Lama Berjaoui
  • 1Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
  • 2Service de Radiologie, Hôtel-Dieu de France, Beirut, Lebanon
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Publication History

Publication Date:
04 March 2008 (online)

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ABSTRACT

Fibrochondrogenesis, a rare lethal chondrodysplasia has been reported on nine patients. We report on a boy with fibrochondrogenesis whose parents were second cousins. Prenatal ultrasonography performed at 22 weeks of gestation revealed an intrauterine growth retardation, an apparently large head, an hypoplasia of the thorax, a prominent abdomen, rhizomelic limbs, and wide metaphysis. The latest have never been reported in other lethal dysplasias.

Keywords

Fibrochondrogenesis - chondrodysplasia - ultrasonography - short limbs - wide metaphysis