罕见门静脉高压症1例报告

M. Aye
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摘要

威廉斯综合征(WBS)是一种多系统表现的发育障碍。7号染色体微缺失导致WBS的发生是因为该区域独特的遗传结构。面部特征从微妙到戏剧性的变化。精神和发展问题的程度是可变的。累及心血管、内分泌和神经系统主要影响发病率和死亡率。虽然该综合征涉及许多系统,但门静脉高压和脾肿大很少报道。我们报告一例威廉症候群合并中度脾大及门静脉高压症。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case report of a Rare Cause of Portal Hypertension
Williams or Williams-Beuren (WBS) is a developmental disorder with multisystemic manifestations. Chromosome 7 microdeletion underlying WBS occurs because of the unique genetic architecture in this region. Facial features change from subtle to dramatic. The extent of mental and development problems is variable. Cardiovascular, endocrine, and nervous system involvement mostly affect the morbidity and mortality. Although many systems are involved in this syndrome, portal hypertension and splenomegaly are scarcely reported. We report a case of William syndrome with moderate splenomegaly and portal hypertension.
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