These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Hereditary hemorrhagic telangiectasia. Report of a pediatric case].
    Author: Maaloul I, Aloulou H, Fourati H, Sfaihi L, Chabchoub I, Kamoun T, Mnif Z, Hachicha M.
    Journal: Arch Pediatr; 2014 Jul; 21(7):768-71. PubMed ID: 24935454.
    Abstract:
    Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that cause recurrent epistaxis and eventually multiple telangiectasia and arteriovenous visceral malformations. We report the case of a 7-year-old girl who developed severe hypoxemia due to multiple pulmonary arteriovenous malformations.
    [Abstract] [Full Text] [Related] [New Search]