Marfan Syndrome: Regarding Two Cases
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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | Spanish |
| Published: |
Universidad de las Ciencias Médicas de Cienfuegos
2020-02-01
|
| Series: | Revista Finlay |
| Subjects: | |
| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/793 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832577489009901568 |
|---|---|
| author | Elsy Roxana Geroy Moya María Quiñones Hernández Anaelys Acosta Hernández |
| author_facet | Elsy Roxana Geroy Moya María Quiñones Hernández Anaelys Acosta Hernández |
| author_sort | Elsy Roxana Geroy Moya |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-bfab9fca9ec742bc86e414272ef66ec4 |
| institution | Kabale University |
| issn | 2221-2434 |
| language | Spanish |
| publishDate | 2020-02-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj-art-bfab9fca9ec742bc86e414272ef66ec42025-01-30T21:22:00ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342020-02-011016272438Marfan Syndrome: Regarding Two CasesElsy Roxana Geroy Moya0María Quiñones Hernández1Anaelys Acosta Hernández2Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.Hospital Pediátrico Universitario Paquito González Cueto. Cienfuegos.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.https://revfinlay.sld.cu/index.php/finlay/article/view/793palabras clave: síndrome de marfánenfermedades genéticas congénitasenfermedades rarasdiagnósticoinformes de casos |
| spellingShingle | Elsy Roxana Geroy Moya María Quiñones Hernández Anaelys Acosta Hernández Marfan Syndrome: Regarding Two Cases Revista Finlay palabras clave: síndrome de marfán enfermedades genéticas congénitas enfermedades raras diagnóstico informes de casos |
| title | Marfan Syndrome: Regarding Two Cases |
| title_full | Marfan Syndrome: Regarding Two Cases |
| title_fullStr | Marfan Syndrome: Regarding Two Cases |
| title_full_unstemmed | Marfan Syndrome: Regarding Two Cases |
| title_short | Marfan Syndrome: Regarding Two Cases |
| title_sort | marfan syndrome regarding two cases |
| topic | palabras clave: síndrome de marfán enfermedades genéticas congénitas enfermedades raras diagnóstico informes de casos |
| url | https://revfinlay.sld.cu/index.php/finlay/article/view/793 |
| work_keys_str_mv | AT elsyroxanageroymoya marfansyndromeregardingtwocases AT mariaquinoneshernandez marfansyndromeregardingtwocases AT anaelysacostahernandez marfansyndromeregardingtwocases |