Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes

被引：0
|
作者：
Erica D. Poletto
Angela M. Trinh
Terry L. Levin
Anthony M. Loizides
机构：
[1] Montefiore Medical Center,Department of Radiology
[2] Albert Einstein College of Medicine,Department of Pediatric Gastroenterology
[3] Children’s Hospital at Montefiore,undefined
来源：
Pediatric Radiology | 2010年 / 40卷
关键词：
Hereditary hemorrhagic telangiectasia; Juvenile polyposis syndrome; MADH4; SMAD4; Child;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is a syndrome characterized by multiorgan telangiectases and arteriovenous malformations. A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis (JPS). We present one such family. Genetic testing is warranted when either HHT or JPS is diagnosed, as early recognition of this syndrome overlap allows appropriate management of these patients.
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页码：1274 / 1277
页数：3
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