Sudden infant death, Williams-Beuren syndrome or both?

被引：0
作者：
B. Zinka
A. Büttner
S. Milz
E. Rauch
R. Penning
机构：
[1] Institut für Rechtsmedizin, Ludwig-Maximilians-Universität, 80337 München
[2] Anatomische Anstalt, Ludwig-Maximilians-Universität, München
来源：
Rechtsmedizin | 2003年 / 13卷 / 2期
关键词：
Elastin arteriopathy; Facial dysmorphism; Sudden infant death; Supravalvular aortic stenosis; Williams-Beuren syndrome;
D O I：
10.1007/s00194-003-0200-z
中图分类号：
学科分类号：
摘要：
The Williams-Beuren syndrome is a genetic disorder caused by a deletion of the elastin gene mapped on chromosome 7 (7q11.23). This results in multi-organ malformation, mental retardation and generalised elastin arteriopathy, which can lead to cardiac and vascular complications and to sudden death. We present two cases in which a postmortem examination was initially carried out with the presumptive diagnosis of sudden infant death, but cardiac malformations and facial dysmorphisms were recognised that could confirm the diagnosis of Williams-Beuren syndrome. In both cases nearly the same pathological findings were seen in the heart and lungs by histological examination. We will discuss if these findings could have caused death and if they can confirm our presumptive diagnosis of a William-Beuren syndrome which could not be verified by a genetic investigation.
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页码：91 / 95
页数：4
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