Article
[Lethal osteogenesis imperfecta. Prenatal diagnosis].
Presse medicale (Paris, France : 1983) - 5 Jun 2004
Dhouib M, Guirat N
Abstract excerpt
INTRODUCTION: Osteogenesis imparfecta (OI) comprises a group of disorders principally affecting type I collagen, which result in increased bone fragility. Lethal forms are rare and are characterised by micromelia with malformation of the limbs. CASE REPORT: A prenatal diagnosis of lethal OI was made by ultrasonography at 18 weeks of gestation and therapeutic abortion was indicated. COMMENTS: Molecular biology and...
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