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

ABSTRACT

Osteogenesis imperfecta is a heterogeneous group of disorders that are characterized by connective tissue defects resulting in bone fragility, blue sclera, impaired hearing, defective dentition, and hyperlaxibility of the joints. The overall incidence of osteogenesis imperfecta is estimated at 1/25,000. We recently experienced a case of osteogenesis imperfecta type II diagnosed in uterus by ultrasonogram and confirmed after termination of pregnancy and autopsy. We report a case here with a brief review of the literature.