Marfan Syndrome: Regarding Two Cases

• Main Authors: Elsy Roxana Geroy Moya, María Quiñones Hernández, Anaelys Acosta Hernández
• Format: Article
• Language: Spanish
• Published: Universidad de las Ciencias Médicas de Cienfuegos 2020-02-01
• Series: Revista Finlay
• Subjects: palabras clave: síndrome de marfán; enfermedades genéticas congénitas; enfermedades raras; diagnóstico; informes de casos
• Online Access: http://www.revfinlay.sld.cu/index.php/finlay/article/view/793

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.