Korean J Perinatol.  2007 Jun;18(2):177-181.

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

• Youn YE
• Kim SB
• Kim HJ

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.

Keyword

Osteogenesis imperfecta; Camptomelic syndrome; Ultrasonogram

MeSH Terms

Cesarean Section
Dentition
Female
Hearing
Incidence
Joints
Osteogenesis Imperfecta*
Osteogenesis*
Parturition
Pregnancy
Sclera
Ultrasonography
Uterus*