Suppr超能文献

一名患有韦弗综合征的女孩。

A girl with the Weaver syndrome.

作者信息

Thompson E M, Hill S, Leonard J V, Pembrey M E

出版信息

J Med Genet. 1987 Apr;24(4):232-4. doi: 10.1136/jmg.24.4.232.

Abstract

A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.

摘要

报告了一名患有韦弗综合征的女性。除了过度生长和骨龄提前的典型表现外,其面容典型,前额宽阔、眼距过宽、人中长、小颌畸形和耳朵大。与大多数其他韦弗综合征患者一样,她发育迟缓、肌张力亢进且声音嘶哑。其他临床特征包括指腹突出、指甲窄而凸、胸廓狭小、单侧尺骨远端脱位以及胸椎异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2138/1050003/907fd85ed4be/jmedgene00078-0041-a.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验