Suppr超能文献

伴有前房劈裂异常的常染色体隐性类罗宾诺综合征

Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.

作者信息

Saal H M, Greenstein R M, Weinbaum P J, Poole A E

机构信息

Department of Pediatrics, University of Connecticut School of Medicine, Farmington 06032.

出版信息

Am J Med Genet. 1988 Jul;30(3):709-18. doi: 10.1002/ajmg.1320300303.

Abstract

We describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cleavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomalies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.

摘要

我们描述了两名患有身材矮小、中肢短小、巨头畸形、生殖器发育不全和前房劈裂异常的姐妹。她们的许多表现已在患有罗宾诺综合征的个体中有所描述;然而,这两名女孩均出现的前房劈裂异常、妹妹出现的脑积水以及明显的常染色体隐性遗传并不属于罗宾诺综合征的特征。这对姐妹所患的综合征很可能代表一种此前未被描述过的常染色体隐性综合征。

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