Hereditary hemorrhagic telangiectasia and juvenile polyposis: An overlap of syndromes

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

Research output: Contribution to journalArticle

6 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1274-1277
Number of pages4
JournalPediatric Radiology
Volume40
Issue number7
DOIs
Publication statusPublished - Jul 2010

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Keywords

  • Child
  • Hereditary hemorrhagic telangiectasia
  • Juvenile polyposis syndrome
  • MADH4
  • SMAD4

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

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