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Article

Reproductive options for families at risk of Osteogenesis Imperfecta: a review

27 May 2020

Abstract excerpt

BACKGROUND: Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. As a genetic...

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PMID: 32460820
DOI: 10.1186/s13023-020-01404-w

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