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Am J Perinatol. 1998 Jul;15(7):403-7.

Prenatal ultrasonography: clinical and radiological findings in a boy with fibrochondrogenesis.

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  • 1Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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.

PMID:
9759906
[PubMed - indexed for MEDLINE]
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