A patient with Phelan-McDermid syndrome and dilation of the great vessels

被引：6

作者：

Deibert, Emily ^{[1
]}

Crenshaw, Melissa ^{[2
]}

Miller, Michelle S. ^{[3
]}

机构：

[1] Florida State Univ, Coll Med, Tallahassee, FL USA

[2] Johns Hopkins All Childrens Hosp, Clin Genet, St Petersburg, FL USA

[3] Johns Hopkins All Childrens Hosp, Pediat Cardiol, St Petersburg, FL 33701 USA

来源：

CLINICAL CASE REPORTS | 2019年 / 7卷 / 04期

基金：

英国惠康基金;

关键词：

9q34; duplication; 22q13; deletion; aortic dilation; COL5A1; gene; Phelan-McDermid syndrome; SHANK3; vasculopathy; INTERSTITIAL; 22Q13; DELETIONS; PHENOTYPE; SHANK3; VALVE;

D O I：

10.1002/ccr3.2003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical Message We present a patient with Phelan-McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge.

引用

收藏

页码：607 / 611

页数：5

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