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孕早期因成骨不全症表现为颈项透明层厚度增加的胎儿。

Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester.

作者信息

Hsieh Charles Tsung-Che, Yeh Guang-Perng, Wu Hsin-Hung, Wu Joung-Liang, Chou Pan-Hsin, Lin Yueh-Min

机构信息

Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.

出版信息

J Clin Ultrasound. 2008 Feb;36(2):119-22. doi: 10.1002/jcu.20360.

Abstract

Type II osteogenesis imperfecta (OI) is a perinatally lethal disorder due to type I collagen abnormalities that has been diagnosed successfully in the second trimester. We report a case of type II OI that was confirmed on postmortem histology and radiography presenting as increased nuchal translucency in the first trimester.

摘要

II型成骨不全症(OI)是一种由于I型胶原蛋白异常导致的围产期致死性疾病,已在孕中期成功诊断。我们报告一例II型OI病例,该病例在尸检组织学和X线检查中得到证实,在孕早期表现为颈部半透明带增厚。

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