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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.

DOI:10.1002/jcu.20360
PMID:17764073
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。

相似文献

1
Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester.孕早期因成骨不全症表现为颈项透明层厚度增加的胎儿。
J Clin Ultrasound. 2008 Feb;36(2):119-22. doi: 10.1002/jcu.20360.
2
Osteogenesis imperfecta associated with increased nuchal translucency as a first ultrasound sign: report of another case.以颈项透明层增厚为首发超声表现的成骨不全：另一病例报告
Ultrasound Obstet Gynecol. 2003 Feb;21(2):200-2. doi: 10.1002/uog.43.
3
Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester.成骨不全及其他在孕早期表现为颈项透明层增厚的骨骼发育异常。
Am J Med Genet. 2001 Jan 15;98(2):117-20.
4
Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium.II型成骨不全症：产前诊断及其与颈部透明带增厚和颅骨低回声的相关性
Taiwan J Obstet Gynecol. 2012 Jun;51(2):315-8. doi: 10.1016/j.tjog.2012.04.032.
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[Update on prenatal diagnosis of osteogenesis imperfecta type II : an index case report diagnosed by ultrasonography in the first trimester].[Ⅱ型成骨不全症产前诊断的最新进展：首例孕早期超声诊断病例报告]
J Gynecol Obstet Biol Reprod (Paris). 2002 Nov;31(7):672-6.
6
Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta.孕早期颈部半透明厚度增加作为成骨不全的一个体征。
Am J Med Genet. 2002 May 15;109(4):336-7. doi: 10.1002/ajmg.10332.
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Prenatal diagnosis of osteogenesis imperfecta.成骨不全症的产前诊断。
Acta Obstet Gynecol Scand. 1995 Apr;74(4):321-3. doi: 10.3109/00016349509024458.
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Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy.双胎妊娠中致死性成骨不全的产前诊断
Clin Genet. 1991 Jun;39(6):467-70. doi: 10.1111/j.1399-0004.1991.tb03059.x.
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[Lethal osteogenesis imperfecta: antenatal diagnosis].[致死性成骨不全：产前诊断]
Pan Afr Med J. 2016 Oct 17;25:88. doi: 10.11604/pamj.2016.25.88.5871. eCollection 2016.
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Perinatal lethal type II osteogenesis imperfecta: a case report.围生期致死性II型成骨不全症：一例报告
Pan Afr Med J. 2015 May 5;21:11. doi: 10.11604/pamj.2015.21.11.6834. eCollection 2015.

引用本文的文献

1
Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III.颈部半透明层增厚和股骨长度缩短可能是III型成骨不全症的早期迹象。
J Prenat Med. 2013 Jan;7(1):5-8.