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Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes

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An Erratum to this article was published on 09 April 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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Authors and Affiliations

  1. Department of Radiology, Montefiore Medical Center, 111 E. 210th St., Bronx, NY, 10467, USA

    Erica D. Poletto & Terry L. Levin

  2. Albert Einstein College of Medicine, Bronx, NY, USA

    Angela M. Trinh

  3. Department of Pediatric Gastroenterology, Children’s Hospital at Montefiore, Bronx, NY, USA

    Anthony M. Loizides

Authors
  1. Erica D. Poletto
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  2. Angela M. Trinh
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  3. Terry L. Levin
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  4. Anthony M. Loizides
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Corresponding author

Correspondence to Erica D. Poletto.

Additional information

An erratum to this article can be found at http://dx.doi.org/10.1007/s00247-010-1597-7

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Poletto, E.D., Trinh, A.M., Levin, T.L. et al. Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes. Pediatr Radiol 40, 1274–1277 (2010). https://doi.org/10.1007/s00247-009-1482-4

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  • DOI: https://doi.org/10.1007/s00247-009-1482-4

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