Suppr超能文献

[胼胝体发育不全]

[Agenesis of the corpus callosum].

作者信息

Nielsen L H

机构信息

Esbjerg Centralsygehus, børneafdelingen.

出版信息

Ugeskr Laeger. 1995 Feb 6;157(6):737-9.

PMID:7701633
Abstract

This article presents ten children with agenesis of the corpus callosum diagnosed during the period 1978-1992. The children were re-examined in 1992, and the results of the examination compared with the results of other authors. Among the ten children, five had other cerebral anomalies, six had eye anomalies, six were mentally retarded and two suffered from epilepsy. There was one boy with inversion on chromosome no. 1, one girl with Aicardie's syndrome, two sisters with agenesis of the corpus callosum (ACC), one of whom was suffering from diabetes insipidus, and two brothers with Walker Warburg's syndrome. ACC is often associated with mental retardation, epilepsy and eye anomalies and may be found associated to many different syndromes.

摘要

本文介绍了1978年至1992年期间确诊的10例胼胝体发育不全患儿。1992年对这些患儿进行了复查,并将检查结果与其他作者的结果进行了比较。在这10名儿童中,5名有其他脑部异常,6名有眼部异常,6名智力发育迟缓,2名患有癫痫。有1名男孩1号染色体倒位,1名女孩患有艾卡迪综合征,2名姐妹患有胼胝体发育不全(ACC),其中1名患有尿崩症,还有2名兄弟患有沃克-沃伯格综合征。ACC常与智力发育迟缓、癫痫和眼部异常相关,并且可能与许多不同的综合征有关。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验