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伴有上肢短小和桡骨发育不全的假三体13综合征

Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia.

作者信息

Boles R G, Teebi A S, Neilson K A, Meyn M S

机构信息

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.

出版信息

Am J Med Genet. 1992 Nov 15;44(5):638-40. doi: 10.1002/ajmg.1320440522.

Abstract

We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We provide a brief review of the newly delineated "pseudo-trisomy 13 syndrome." Severe limb shortness of radial hypoplasia has not been described previously in this syndrome. The present case may expand the spectrum of the pseudo-trisomy 13 syndrome, or may represent a distinct entity.

摘要

我们报告了一例患有前脑无裂畸形、轴后多指畸形、多个内脏异常、上肢短小及桡骨发育不全且染色体正常的胎儿。我们简要回顾了新定义的“假性13三体综合征”。此前该综合征中未描述过伴有桡骨发育不全的严重肢体短小情况。本病例可能会扩展假性13三体综合征的范围,或者可能代表一种独特的病症。

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