Suppr超能文献

两名患有雷特综合征的姐妹。

Two sisters with Rett syndrome.

作者信息

Haenggeli C A, Moura-Serra J, DeLozier-Blanchet C D

机构信息

Department of Pediatrics, University of Geneva, Switzerland.

出版信息

J Autism Dev Disord. 1990 Mar;20(1):129-38. doi: 10.1007/BF02206862.

Abstract

We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of Rett syndrome as defined by the Rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.

摘要

我们介绍了两名患有雷特综合征姐妹的临床病史和体格检查结果。体格检查结合她们的病历回顾发现,两名患者均符合雷特综合征诊断标准工作组所定义的雷特综合征诊断必要标准。姐姐目前25岁,是典型病例,而妹妹目前22岁,患有癫痫障碍,发病异常早。

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