Neonatal pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasia

Koppen, S.; Korver, C. R. W.; Dalinghaus, M.; Westermann, C. J. J.
November 2002
Archives of Disease in Childhood -- Fetal & Neonatal Edition;Nov2002, Vol. 87 Issue 3, p226
Academic Journal
Hereditary haemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant mucocutaneous and visceral vascular dysplasia, characterised by the occurrence of telangiectasia and arteriovenous malformations. Patients are usually recognised by the presence of telangiectasia, recurrent epistaxis, and a positive family history. Clinical symptoms usually appear after puberty. HHT remains a clinical diagnosis despite identification of two genes that cause the disease when mutated. The four clinical diagnostic criteria have been clearly defined.


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