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威廉姆斯-博伦综合征(作者译)

[Williams-beuren-syndrome (author's transl)].

作者信息

Zach M, Beitzke A, Gypser G

出版信息

Padiatr Padol. 1977;12(2):167-73.

PMID:558571
Abstract

In the initial descriptions of the elfin-facies-syndrome by Williams and Beuren, supravalvular aortic stenosis was considered to be a constant feature of the syndrome, combined with retardation of mental and physical development, dentition anomalies and the peculiar face. According to newer findings, the missing of this deformity is no proof against the existence of the above-mentioned syndrome. Usually an elevation of the calcium-level is not found in the serum of these children, although there seems to be some relation to the calcium-metabolism. The characteristic picture of this deformity is demonstrated by two, very typical cases.

摘要

在威廉姆斯(Williams)和博伦(Beuren)最初对小精灵面容综合征的描述中,主动脉瓣上狭窄被认为是该综合征的一个恒定特征,同时伴有智力和身体发育迟缓、牙齿异常以及特殊面容。根据最新研究结果,没有这种畸形并不能排除上述综合征的存在。通常在这些儿童的血清中未发现钙水平升高,尽管似乎与钙代谢存在某种关联。这种畸形的典型表现通过两个非常典型的病例得以展示。

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