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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。

Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester.

作者信息

Makrydimas G, Souka A, Skentou H, Lolis D, Nicolaides K

机构信息

Department of Obstetrics and Gynecology, Ioannina University Hospital, Ioannina, Greece.

出版信息

Am J Med Genet. 2001 Jan 15;98(2):117-20.

PMID:11223845
Abstract

We present two case reports of osteogenesis imperfecta associated with increased nuchal translucency in the first trimester. We also review the literature of first trimester diagnosis of skeletal dysplasias and their association with increased nuchal translucency.

摘要

我们报告两例孕早期与颈项透明层增厚相关的成骨不全病例。我们还回顾了骨骼发育异常的孕早期诊断及其与颈项透明层增厚相关性的文献。

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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.
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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。
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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。
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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
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[Prenatal diagnosis of osteogenesis imperfecta. Report of a case classified as the classical Vrolik lethal type].[成骨不全的产前诊断。一例分类为经典Vrolik致死型病例的报告]
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Skeletal dysplasias.骨骼发育异常
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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。
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