A Case of Osteogenesis Imperfecta: Diagnosed in Uterus by Ultrasonogram / 대한산부인과학회잡지

ABSTRACT

Osteogenesis imperfecta is a relatively rare genetic condition of breakable bones with an incidence of 1 per 20,000~60,000. The clinical, genetic, and biochemical heterogeneity in osteogenesis imperfecta allows to least four subtypes to be distinguished. Prenatal diagnosis of osteogenesis imperfecta type II have been reported several times with ultrasonography. We recently experienced a case of osteogenesis imperfecta diagnosed in uterus by ultrasonogram and confirmed after termination and autopsy. We report here with a brief review of the literature.