A Case of Perinatal Lethal Osteogeenesis Imperfecta / 대한주산의학회잡지

ABSTRACT

Osteogenesis imperfecta is a rare congenital disease. It is a heterogeneous group of inherited disorders characterized by multiple bone fracture, blue sclera, hearing loss, abnormalities of dentition and widespread connective tissue ahnormality. We experienced a case of osteogenesis imperfecta diagnosed in utero by ultrasonogram and confirmed hy postnatal radiograph after delivery. We present the case with a hrief review of the literature.