Open AccessSíndrome de Loeys-Dietz, 3 generaciones, 4 casos familiares
Author(s) -
Carlos F Rosental,
Silvieiling,
Natalia Nápoli,
Claudia Villalba,
Jorge Barretta,
Horacio Capelli
Publication year - 2017
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2017.e220
Subject(s) - medicine , hypertelorism , anatomy
Loeys-Dietz Syndrome is an autosomal dominant disease with aortic aneurysms, arterial tortuosity with hypertelorism and bifid uvula. We describe four familial cases within three generations. The diagnosis, surgical management and followup will be addressed.