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小精灵面容(威廉姆斯-贝伦综合征=wbs)和主动脉瓣上狭窄(=svas)的家族性发病情况(作者译)

[Familial occurrence of Elfin's face (Williams-Beurens Syndrome =wbs) and supravalvular aortic stenosis (= svas) (author's transl)].

作者信息

Hammerer I, Gassner I, Müller W

出版信息

Klin Padiatr. 1979 May;191(3):287-92.

PMID:572446
Abstract

Three siblings out of two families -- the mothers being sisters -- have signs of WBS: a girl shows the complete picture of elfin's face syndrome; a boy who needed surgical treatment for severe supravalvular aortic stenosis, presents only with minimal signs of the peculiar facies like his mother. His brother has slight supravalvular aortic stenosis. The three children described show trivial peripheral pulmonary stenosis. It is known that SVAS and WBS may show a dominant mode of inheritance with variable expressivity. The purpose of this study was to find signs which would prove a dominant inheritance in this kinship. Dental malpositions and coarse upperlip with shallow philtrum where the only symptomes found in the patients and their mothers. If we accept this traits as markers for the syndrome than we could assume a dominant way of inheritance.

摘要

来自两个家庭的三个兄弟姐妹——母亲是姐妹——有威廉姆斯综合征(WBS)的体征:一个女孩呈现出小精灵面容综合征的全貌;一个因严重的主动脉瓣上狭窄需要手术治疗的男孩,仅表现出与他母亲相似的轻微特殊面容体征。他的弟弟有轻度主动脉瓣上狭窄。所描述的这三个孩子有轻微的外周肺动脉狭窄。已知主动脉瓣上狭窄(SVAS)和威廉姆斯综合征可能呈现显性遗传模式且表现度可变。本研究的目的是寻找能证明这种亲属关系中存在显性遗传的体征。牙列不齐和上唇粗糙且人中浅是在患者及其母亲身上发现的仅有的症状。如果我们将这些特征视为该综合征的标志物,那么我们可以假定其遗传方式为显性遗传。

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