Marfan syndrome. Report of a patient
Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or sex predominance. A patient with sporadic Mar...
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| Format: | Article |
| Language: | Spanish |
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Editorial Ciencias Médicas
2015-12-01
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| Series: | Acta Médica del Centro |
| Subjects: | |
| Online Access: | http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/292 |
| _version_ | 1828304098345091072 |
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| author | Luis Alberto Santos Pérez Eric González Fernández Cándida Grisel Milián Hernández |
| author_facet | Luis Alberto Santos Pérez Eric González Fernández Cándida Grisel Milián Hernández |
| author_sort | Luis Alberto Santos Pérez |
| collection | DOAJ |
| description | Marfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or sex predominance. A patient with sporadic Marfan syndrome was diagnosed after being benefited with a renal transplantation. Review of the clinical manifestations syndrome of Marfan is done and criteria for diagnosis. |
| first_indexed | 2024-04-13T14:05:01Z |
| format | Article |
| id | doaj.art-05eb2eacfb984f5a8d9b5fbbd60c36c8 |
| institution | Directory Open Access Journal |
| issn | 2709-7927 |
| language | Spanish |
| last_indexed | 2024-04-13T14:05:01Z |
| publishDate | 2015-12-01 |
| publisher | Editorial Ciencias Médicas |
| record_format | Article |
| series | Acta Médica del Centro |
| spelling | doaj.art-05eb2eacfb984f5a8d9b5fbbd60c36c82022-12-22T02:43:55ZspaEditorial Ciencias MédicasActa Médica del Centro2709-79272015-12-01944651268Marfan syndrome. Report of a patientLuis Alberto Santos Pérez0Eric González Fernández1Cándida Grisel Milián Hernández2Hospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, CubaHospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, CubaHospital Clínico Quirúrgico “Arnaldo Milián Castro”, Santa Clara, Villa Clara, CubaMarfan syndrome is a congenital hereditary disease (sporadic in 15-30% of cases) of connective tissue, dominant autosomal with complete penetrance, with prevalence estimated at one per 5 000 people and incidence of one per 10 000 births without racial or sex predominance. A patient with sporadic Marfan syndrome was diagnosed after being benefited with a renal transplantation. Review of the clinical manifestations syndrome of Marfan is done and criteria for diagnosis.http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/292síndrome de marfanenfermedades genéticas congénitas |
| spellingShingle | Luis Alberto Santos Pérez Eric González Fernández Cándida Grisel Milián Hernández Marfan syndrome. Report of a patient Acta Médica del Centro síndrome de marfan enfermedades genéticas congénitas |
| title | Marfan syndrome. Report of a patient |
| title_full | Marfan syndrome. Report of a patient |
| title_fullStr | Marfan syndrome. Report of a patient |
| title_full_unstemmed | Marfan syndrome. Report of a patient |
| title_short | Marfan syndrome. Report of a patient |
| title_sort | marfan syndrome report of a patient |
| topic | síndrome de marfan enfermedades genéticas congénitas |
| url | http://www.revactamedicacentro.sld.cu/index.php/amc/article/view/292 |
| work_keys_str_mv | AT luisalbertosantosperez marfansyndromereportofapatient AT ericgonzalezfernandez marfansyndromereportofapatient AT candidagriselmilianhernandez marfansyndromereportofapatient |