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[威廉姆斯综合征。关于一个罕见病例的思考]

[Williams syndrome. Considerations on an unusual case].

作者信息

Alpigiani M G, Franzone G, Puleo M G, Carpi A, Iester A

机构信息

Ia Clinica Pediatrica, Istituto G. Gaslini, Genova, Italia.

出版信息

Pediatr Med Chir. 1994 Jan-Feb;16(1):85-6.

PMID:8029098
Abstract

We report one case of WS, who came at our first observation at age of eight for mental retardation and congenial cardiopathy of unknown origin. Echocardiography and Doppler examination showed immediately isthmic aortic stenosis, and therefore aortic plastic surgery was performed, with a good post-operative result. The case aroused the interest of the Authors, owing to the late diagnosis of aortic coarctation, which, however, did not produce hemodynamic alteration.

摘要

我们报告1例威廉姆斯综合征(WS)患者,其8岁时因智力发育迟缓及不明原因的先天性心脏病首次前来我院就诊。超声心动图和多普勒检查即刻显示峡部主动脉狭窄,因此实施了主动脉整形手术,术后效果良好。该病例引起了作者们的兴趣,原因是主动脉缩窄诊断较晚,不过并未产生血流动力学改变。

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