Presse Med
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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. ⋯ Molecular 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.