Suppr超能文献

并指畸形的塞纳尼-伦茨类型的当前疾病分类学。

Present nosology of the Cenani-Lenz type of syndactyly.

作者信息

Pfeiffer R A, Meisel-Stosiek M

出版信息

Clin Genet. 1982 Jan;21(1):74-9. doi: 10.1111/j.1399-0004.1982.tb02083.x.

Abstract

Synostoses of the carpals and metacarpals with oligodactyly were noted in a man whose brother was similarly affected. Since the proband's two children are normal, autosomal recessive transmission is probable. Although abnormalities of the feet, and particularly radioulnar synostosis, are lacking, this malformation is comparable to the Cenani-Lenz type of syndactyly. Interfamilial variations of published cases suggest subdivision of a new nosologic group.

摘要

在一名男性患者中发现腕骨和掌骨融合并伴有少指畸形,其兄弟也有类似症状。由于先证者的两个孩子正常,故可能为常染色体隐性遗传。尽管该患者足部无异常,尤其是桡尺骨融合缺失,但这种畸形与Cenani-Lenz并指类型相似。已发表病例的家族间差异提示可细分出新的疾病分类组。

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