[Hereditary hemorrhagic telangiectasia. Report of a pediatric case]. / La maladie de Rendu-Osler-Weber : à propos d'une nouvelle observation pédiatrique.
Arch Pediatr
; 21(7): 768-71, 2014 Jul.
Article
em Fr
| MEDLINE
| ID: mdl-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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Telangiectasia Hemorrágica Hereditária
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2014
Tipo de documento:
Article