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Prenatal diagnosis of bone dysplasias

26 Jun 2023

Abstract excerpt

Bone dysplasias are individually rare but collectively common. The prenatal diagnosis of bone dysplasias, especially perinatally lethal dysplasias, is of major interest to obstetric services. The current nosology of genetic skeletal disorders addresses over 400 disorders. However, in clinical practice, we encounter only a limited number of disorders, such as FGFR3-related dysplasias, osteogenesis imperfecta, and...

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PMID: 37351952
DOI: 10.1259/bjr.20221025

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