Suppr超能文献

屈曲指畸形伴肌肉发育不全、骨骼发育异常及手掌褶皱异常:特尔哈绍梅尔屈曲指综合征。

Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

作者信息

Goodman R M, Katznelson M B, Hertz M, Katznelson A

出版信息

J Med Genet. 1976 Apr;13(2):136-41. doi: 10.1136/jmg.13.2.136.

Abstract

A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown.

摘要

在一对近亲结婚所生的姐妹中,发现了一种以屈曲指、独特面部特征、多处肌肉骨骼缺陷和独特皮纹变化为特征的综合征。1972年,在来自不同种族的两个同胞中首次报道了同样一组症状。这种被称为泰尔哈绍梅尔屈曲指综合征的遗传性结缔组织疾病被认为是通过常染色体隐性遗传特征传播的。其根本缺陷尚不清楚。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5324/1013373/a137df636b61/jmedgene00309-0058-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