Suppr超能文献

Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance.

作者信息

Partington M, Anderson D

机构信息

Newcastle and Northern New South Wales Genetics Service, Australia.

出版信息

Am J Med Genet. 1994 Jan 15;49(2):247-50. doi: 10.1002/ajmg.1320490218.

Abstract

We describe a brother and sister from one family and a girl from a second, unrelated family; they have a syndrome of pre- and post-natal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae. We think this is a new syndrome probably inherited as an autosomal recessive trait.

摘要

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