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.
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收藏
页码：62 / 72
页数：11
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