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KMID : 0361720070180020177
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Korean Journal of perinatology
2007 Volume.18 No. 2 p.177 ~ p.181
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A Case of Osteogenesis Imperfecta Type II Misdiagnosed as a Camptomelic Syndrome in Uterus
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Youn Young-Eun
Kim Hang-Jin
Kim Seok-Bae
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Abstract
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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.
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KEYWORD
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Osteogenesis imperfecta, Camptomelic syndrome, Ultrasonogram
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