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01-07-2010 | Case Report

Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes

Authors: Erica D. Poletto, Angela M. Trinh, Terry L. Levin, Anthony M. Loizides

Published in: Pediatric Radiology | Issue 7/2010

Abstract

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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Title: Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes
Authors: Erica D. Poletto
Angela M. Trinh
Terry L. Levin
Anthony M. Loizides
Publication date: 01-07-2010
Publisher: Springer-Verlag
Published in: Pediatric Radiology / Issue 7/2010
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-009-1482-4

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Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes

Abstract

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Springer Medicine

Abstract

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