Marfan Syndrome: Regarding Two Cases

被引：0

作者：

Geroy Moya, Elsy Roxana ^{[1
]}

Quinones Hernandez, Maria ^{[1
]}

Acosta Hernandez, Anaelys ^{[1
]}

机构：

[1] Hosp Pediat Univ Paquito Gonzalez Cueto, Cienfuegos, Cuba

来源：

FINLAY | 2020年 / 10卷 / 01期

关键词：

marfan syndrome; genetic diseases inborn; rare diseases; diagnosis; case reports;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：62 / 72

页数：11

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