Article
An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.
American journal of medical genetics. Part A - 1 May 2020
De Luca Caterina, Bevilacqua Elisa, Badr Dominique A, Cannie Mieke M, Sanchez Teresa C, Segers Valérie, Keymolen Kathelijn, Jani Jacques C
Abstract excerpt
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Curaçao criteria, include the following: recurrent epistaxis or nighttime nose bleeding, mucocutaneous telangiectases, visceral arteriovenous malformation, or an appropriate family history. The diagnosis is classified as definite if three criteria are present, possible if two criteria are present,...
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