• Presse Med · Jun 2004

    Case Reports

    [Lethal osteogenesis imperfecta. Prenatal diagnosis].

    • M Dhouib and N Guirat.
    • Service de gynécologie-obstétrique, Hôpital régional de Maharès, Tunisie. drdhouib_mounir@yahoo.fr
    • Presse Med. 2004 Jun 5; 33 (10): 658-60.

    IntroductionOsteogenesis 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 ReportA prenatal diagnosis of lethal OI was made by ultrasonography at 18 weeks of gestation and therapeutic abortion was indicated.CommentsMolecular biology and genetic studies offer new possibilities of prenatal diagnosis, but ultrasonography remains the investigation of choice. It confirms the diagnosis by revealing an increase in bone transparency.

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