Neonatal Marfan Syndrome: a case report
Introduction: Marfan syndrome is a rare disorder, autosomaldominant that affects connective tissue, involving mostly the skeletal,ocular and card...
| Autores: | , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2011 |
| País: | Brasil |
| Institución: | Faculdade de Medicina de Campos (FMC) |
| Repositorio: | Revista Científica da Faculdade de Medicina de Campos |
| Idioma: | portugués |
| OAI Identifier: | oai:ojs.www.fmc.br:article/98 |
| Acceso en línea: | https://www.fmc.br/ojs/index.php/RCFMC/article/view/98 |
| Access Level: | acceso abierto |
| Palabra clave: | Síndrome de Marfan, Síndrome de Marfan neonatal, prolapso de valva mitral Marfan Syndrome Neonatal Marfan Syndrome, mitral valve prolapse. |
| Sumario: | Introduction: Marfan syndrome is a rare disorder, autosomaldominant that affects connective tissue, involving mostly the skeletal,ocular and cardiovascular tissues. Mutations in the fibrillin gene(FBN1) located on chromosome 15q21 are responsible for theobserved patterns of defects in this syndrome. The diagnosis ismade according to a review of diagnostic criteria known as theGhent nosology, through an evaluation of major and minor criteria.Objective: To report a case of Marfan syndrome, neonatal form.Methods: Analysis of medical records, monitoring of the patientand review of literature.Case report: Female infant with report of tachypnea associated tofeeding, was hospitalized at seven months when the diagnosis ofMarfan syndrome was established based on: heart murmur,lengthened extremities and fingers, limpness, hipermobility andechocardiographic finding of mitral and tricuspid dysplasia. Shewas submitted to surgical treatment with good evolution.Conclusion: Early diagnosis is essential for an optimalmanagement of Marfan syndrome, and depends on valuation ofsigns and symptoms, concomitant with the prior knowledge of thisrare condition. |
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