Suppr超能文献

[快乐木偶综合征或安吉尔曼综合征。关于3例病例的综述]

[Happy puppet or Angelman's syndrome. Review apropos of 3 cases].

作者信息

Pascual Pascual S I, Campos Tullot R, Escudero B, García Simón R

出版信息

An Esp Pediatr. 1986 May;24(5):311-6.

PMID:3740666
Abstract

Angelman's or "happy puppet" syndrome is a disorder of unknown etiology characterized by severe or profound mental retardation with deepest involvement of language, frequent smile and laughter and a happy appearance of every patient. Constant somatic features are microcephaly with braquicephaly, wide face, prognathism, occipital flattening and protruding tongue. Their movements are incoordinated and ataxic, giving them a puppet-like aspect. Electroencephalographic abnormalities are constant and severe but they usually have sporadic epileptic seizures. Only about fifty cases have been reported, affecting both sexes and belonging to different continents and reaces, but authors think the disorder is more frequent. First three patients of Spanish literature are presented and findings of "happy puppet" syndrome are commented.

摘要

安吉尔曼综合征或“快乐木偶”综合征是一种病因不明的疾病,其特征为严重或极重度智力障碍,语言功能受累最深,患者经常微笑和大笑,呈现出快乐的表情。常见的躯体特征包括小头畸形伴短头畸形、宽脸、下颌前突、枕部扁平及伸舌。他们的动作不协调且共济失调,呈现出木偶样外观。脑电图异常持续且严重,但通常仅有散发性癫痫发作。据报道仅有约50例,男女均有,分布于不同大陆和种族,但作者认为该疾病更为常见。本文介绍了西班牙文献中的前三例患者,并对“快乐木偶”综合征的研究结果进行了评论。

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