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Archivos argentinos de pediatría
versão impressa ISSN 0325-0075versão On-line ISSN 1668-3501
Resumo
ROSENTAL, Carlos F et al. Loeys-Dietz Syndrome, 3 generations, 4 familial cases. Arch. argent. pediatr. [online]. 2017, vol.115, n.4, pp.e220-e224. ISSN 0325-0075. http://dx.doi.org/10.5546/aap.2017.e220.
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.
Palavras-chave : Loeys-Dietz syndrome; Aortic aneurysm; Aortic dissection.