Literature DB >> 20012952

Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes.

Erica D Poletto1, Angela M Trinh, Terry L Levin, Kalliope Tsirilakis, Anthony M Loizides.   

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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Year:  2009        PMID： 20012952     DOI： 10.1007/s00247-009-1482-4

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  8 in total

Review 1.  Hereditary hemorrhagic telangiectasia.

Authors:  A E Guttmacher; D A Marchuk; R I White
Journal:  N Engl J Med       Date:  1995-10-05       Impact factor: 91.245

Review 2.  A review of juvenile polyposis syndrome.

Authors:  Elizabeth Chow; Finlay Macrae
Journal:  J Gastroenterol Hepatol       Date:  2005-11       Impact factor: 4.029

Review 3.  Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Authors:  S A Abdalla; M Letarte
Journal:  J Med Genet       Date:  2005-05-06       Impact factor: 6.318

4.  SMAD4 mutations found in unselected HHT patients.

Authors:  C J Gallione; J A Richards; T G W Letteboer; D Rushlow; N L Prigoda; T P Leedom; A Ganguly; A Castells; J K Ploos van Amstel; C J J Westermann; R E Pyeritz; D A Marchuk
Journal:  J Med Genet       Date:  2006-04-13       Impact factor: 6.318

5.  High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Authors:  S Aretz; D Stienen; S Uhlhaas; M Stolte; M M Entius; S Loff; W Back; A Kaufmann; K-M Keller; S H Blaas; R Siebert; S Vogt; S Spranger; E Holinski-Feder; L Sunde; P Propping; W Friedl
Journal:  J Med Genet       Date:  2007-09-14       Impact factor: 6.318

6.  Hereditary generalized juvenile polyposis associated with pulmonary arteriovenous malformation.

Authors:  K L Cox; R C Frates; A Wong; G Gandhi
Journal:  Gastroenterology       Date:  1980-06       Impact factor: 22.682

7.  A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Authors:  Carol J Gallione; Gabriela M Repetto; Eric Legius; Anil K Rustgi; Susan L Schelley; Sabine Tejpar; Grant Mitchell; Eric Drouin; Cornelius J J Westermann; Douglas A Marchuk
Journal:  Lancet       Date:  2004-03-13       Impact factor: 79.321

Review 8.  Imaging of hereditary hemorrhagic telangiectasia.

Authors:  Marie-France Carette; Cosmina Nedelcu; Marc Tassart; Jean-Didier Grange; Marie Wislez; Antoine Khalil
Journal:  Cardiovasc Intervent Radiol       Date:  2008-10-30       Impact factor: 2.740
  8 in total
  1 in total

1.  Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.

Authors:  Frank Schwenter; Marie E Faughnan; Abigail B Gradinger; Terri Berk; Robert Gryfe; Aaron Pollett; Zane Cohen; Steven Gallinger; Carol Durno
Journal:  J Gastroenterol       Date:  2012-02-14       Impact factor: 7.527
  1 in total

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