Suppr超能文献

早发型科凯恩综合征

Cockayne syndrome with early onset of manifestations.

作者信息

Moyer D B, Marquis P, Shertzer M E, Burton B K

出版信息

Am J Med Genet. 1982 Oct;13(2):225-30. doi: 10.1002/ajmg.1320130213.

Abstract

The Cockayne syndrome is an autosomal recessive syndrome of growth failure and characteristic physical and pathological changes. Typically the disorder becomes manifest in the second year of life; growth and development are normal during the first year. We report presumably monozygotic twins with otherwise classic Cockayne syndrome but with a prenatal onset. Several previously described cases seem to represent a similar form of Cockayne syndrome with early onset of growth failure and development delay.

摘要

科凯恩综合征是一种常染色体隐性综合征,其特征为生长发育迟缓以及典型的身体和病理变化。通常,该病症在出生后第二年显现;第一年时生长发育正常。我们报告了一对疑似同卵双胞胎,他们患有典型的科凯恩综合征,但发病于产前。先前描述的一些病例似乎代表了科凯恩综合征的一种类似形式,其特征为生长发育迟缓及发育延迟早发。

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