산전 초음파로 진단된 골형성부전증 (II) 1 례

Abstract

The osteogenesis imperfecta is a rare congenital disease characterized with multiple bone fracture, blue sclera progressive deafness, abnomalities of dentition, loose jointedness and skin. We recently experienced a case of osteogenesis imperfecta (II) diagnosed in utero by ultrasonogram and confirmed after delevery, we report here with a brief review of the literature.