Abstract

MOYA,, Elsy Roxana Geroy; HERNANDEZ,, María Quiñones  and  HERNANDEZ., Anaelys Acosta. Marfan Syndrome: Regarding Two Cases. Rev. Finlay [online]. 2020, vol.10, n.1, pp.62-72.  Epub Mar 30, 2020. ISSN 2221-2434.

Marfan syndrome is an autosomal dominant genetic disorder, with a prevalence of 1 every 5,000-10,000 newborns, so it is classified as an uncommon disease. It affects multiple organs and systems; its prognosis is marked by the cardiovascular involvement. Multidisciplinary follow-up of these patients allows the timely diagnosis of complications and improves their quality of life. Two cases with Marfan syndrome and other associated diseases are presented. A literature review was carried out regarding the report of 2 teenager clinical cases with suggestive phenotypic characteristics, the first case with an associated arachnoidocele and the second case with Gilbert's disease.

Keywords : marfan syndrome; genetic diseases inborn; rare diseases; diagnosis; case reports.

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