Suppr超能文献

拉森综合征的临床变异性:在超声检测到严重受影响胎儿后对父亲进行诊断。

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.

作者信息

Becker R, Wegner R D, Kunze J, Runkel S, Vogel M, Entezami M

机构信息

Free University of Berlin, Klinikum Benjamin Franklin, Germany.

出版信息

Clin Genet. 2000 Feb;57(2):148-50. doi: 10.1034/j.1399-0004.2000.570210.x.

Abstract

Larsen syndrome shows a broad spectrum of clinical manifestation ranging from a lethal form of the disorder to a mild clinical expression with absence of major diagnostic features. Here we show that even intrafamilial manifestation may vary extremely to the point that Larsen syndrome in a father has been diagnosed only by typical sonographic features in an affected fetus.

摘要

拉森综合征临床表现范围广泛,从该疾病的致死型到缺乏主要诊断特征的轻度临床表现。在此我们表明,即使是家族内的表现也可能差异极大,以至于一位父亲的拉森综合征仅通过受影响胎儿的典型超声特征才得以诊断。

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