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特纳氏婴儿期表型。

Turner's infantile phenotype.

作者信息

Gordon R R, O'Neill E M

出版信息

Br Med J. 1969 Feb 22;1(5642):483-5. doi: 10.1136/bmj.1.5642.483.

Abstract

Turner's infantile phenotype is a term used to describe infants with stigmata suggestive of Turner's syndrome. These include brawny oedema of the feet, loose neck folds, and a characteristic facies. Ten cases are described in this report. Four of these had a similar facial appearance and three had serous effusions. Two of the latter died and at necropsy no cardiac, vascular, or renal cause for the effusions was found, but the gonads in each were macroscopically reduced in size and microscopically were grossly abnormal.

摘要

特纳氏婴儿表型是一个用于描述具有提示特纳氏综合征体征的婴儿的术语。这些体征包括足部粗壮水肿、颈部皮肤松弛褶皱以及特征性面容。本报告描述了10例病例。其中4例具有相似的面部外观,3例有浆液性积液。后3例中的2例死亡,尸检时未发现导致积液的心脏、血管或肾脏原因,但每例的性腺在宏观上体积减小,在微观上严重异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8338/1982542/3b9b93b81d46/brmedj02020-0054-a.jpg

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