A Case of Osteogenesis Imperfecta Type II Misdiagnosed as a Camptomelic Syndrome in Uterus / 대한주산의학회잡지

ABSTRACT

Osteogenesis imperfecta is a very rare heterogeneous disorder and its overall incidence is estimated at 1/25,000 births. It is characterized by bone fragility, loss of bone mass, blue sclera, impaired hearing, poor dentition and hypermobile joints. It is categorized into 4 types and we should distinguish it from other skeletal disorder such as the Camptomelic syndrome. We recently experienced a case of osteogenesis imperfecta type II, misdiagnosed as the Camptomelic syndrome in uterus by ultrasonogram and delivered by Cesarean section near term. We report this case with a brief review of the literature.