X Fragile Syndrome: brief review and case report
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Evidência - Ciência e Biotecnologia - Interdisciplinar |
Texto Completo: | https://periodicos.unoesc.edu.br/evidencia/article/view/16146 |
Resumo: | X Fragile Syndrome is pointed as the greatest cause of inherited mental retardation, and the second most common genetic cause of mental retardation. It reaches all ethnic groups and races, but with low prevalence. It is estimated that one on every 1000 male births carries the syndrome and that one on every 2000 female born alive is affected. Although not specific, numerous physical and cognitive changes may be related to the syndrome, such as mental deficiency, facial dysmorphism and behavioral changes. This study aimed to briefly review the available literature about X Fragile Syndrome and present a case report of a newborn diagnosed with the disease. Thus, Brazilian databases were consulted and, to assist in the diagnosis of other individuals who may have the syndrome, an ethics committee approved the clinical report in order to bring public initial symptomatology, clinical exams and evolution of a patient with X Fragile Syndrome. It is necessary to acquire the syndrome’s diagnosis as soon as possible, since it has no cure and the treatment consists of improving and prolonging the quality of life of the affected patient. Genetic counseling is also indicated in most cases to prevent further onset of the syndrome.Keywords: Martin-Bell syndrome. Review. Medical records. |
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X Fragile Syndrome: brief review and case reportSíndrome do X frágil: breve revisão e relato de casoSíndrome do X-Frágil. Síndrome de Martin-Bell. Revisão. Registros MédicosX Fragile Syndrome is pointed as the greatest cause of inherited mental retardation, and the second most common genetic cause of mental retardation. It reaches all ethnic groups and races, but with low prevalence. It is estimated that one on every 1000 male births carries the syndrome and that one on every 2000 female born alive is affected. Although not specific, numerous physical and cognitive changes may be related to the syndrome, such as mental deficiency, facial dysmorphism and behavioral changes. This study aimed to briefly review the available literature about X Fragile Syndrome and present a case report of a newborn diagnosed with the disease. Thus, Brazilian databases were consulted and, to assist in the diagnosis of other individuals who may have the syndrome, an ethics committee approved the clinical report in order to bring public initial symptomatology, clinical exams and evolution of a patient with X Fragile Syndrome. It is necessary to acquire the syndrome’s diagnosis as soon as possible, since it has no cure and the treatment consists of improving and prolonging the quality of life of the affected patient. Genetic counseling is also indicated in most cases to prevent further onset of the syndrome.Keywords: Martin-Bell syndrome. Review. Medical records.A Síndrome do X Frágil é considerada a maior causa de retardo mental herdado, e a segunda causa genética mais comum de deficiência mental. Ela atinge todos os grupos étnicos e raças, porém tem pouca prevalência. Estima-se que a cada 1000 crianças nascidas vivas do sexo masculino, uma seja portadora da Síndrome, e que a cada 2000 crianças nascidas vivas do sexo feminino, uma seja afetada. Embora não sejam específicas, inúmeras alterações físicas e cognitivas podem ser relacionadas à Síndrome, como a deficiência mental, o dismorfismo facial e as alterações comportamentais. O objetivo com este estudo foi revisar brevemente a literatura disponível acerca da Síndrome do X Frágil e apresentar um relato de caso sobre uma criança recém-nascida diagnosticada com a doença. Para isso, bases de dados nacionais foram consultadas, e a confecção do relato clínico foi aprovada por um comitê de ética para descrever a sintomatologia inicial, os exames clínicos e a evolução da paciente com Síndrome do X Frágil a fim de auxiliar no diagnóstico de outros indivíduos que possam ter a Síndrome. É necessário que o diagnóstico da Síndrome seja feito o mais rápido possível em razão de que ela não tem cura, e o tratamento consiste em melhorar a qualidade e prolongar a vida do paciente afetado. O aconselhamento genético é indicado na maioria dos casos para evitar e prevenir novas aparições da Síndrome.Palavras-chave: Síndrome de Martin-Bell. Revisão. Registros médicos.Universidade do Oeste de Santa Catarina2017-12-19info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://periodicos.unoesc.edu.br/evidencia/article/view/1614610.18593/eba.v17i2.16146Evidence; Vol. 17 No. 2 (2017): Evidência - Ciência e Biotecnologia; 135-150Evidência; v. 17 n. 2 (2017): Evidência - Ciência e Biotecnologia; 135-1502236-60591519-528710.18593/eba.v17i2reponame:Evidência - Ciência e Biotecnologia - Interdisciplinarinstname:Universidade do Oeste de Santa Catarina (UNOESC)instacron:UNOESCporhttps://periodicos.unoesc.edu.br/evidencia/article/view/16146/pdfCopyright (c) 2017 Evidência - Ciência e Biotecnologiainfo:eu-repo/semantics/openAccessAmaral, Laiamma Ribeiro doSoares Melo, Hugo Christiano2020-10-16T20:56:51Zoai:ojs.periodicos.unoesc.edu.br:article/16146Revistahttp://editora.unoesc.edu.br/index.php/evidenciaPUBhttp://editora.unoesc.edu.br/index.php/evidencia/oaieditora@unoesc.edu.br||evidencia@unoesc.edu.br||jane.gelinski@unoesc.edu.br|| debora.pereira@unoesc.edu.br2236-60591519-5287opendoar:2020-10-16T20:56:51Evidência - Ciência e Biotecnologia - Interdisciplinar - Universidade do Oeste de Santa Catarina (UNOESC)false |
dc.title.none.fl_str_mv |
X Fragile Syndrome: brief review and case report Síndrome do X frágil: breve revisão e relato de caso |
title |
X Fragile Syndrome: brief review and case report |
spellingShingle |
X Fragile Syndrome: brief review and case report Amaral, Laiamma Ribeiro do Síndrome do X-Frágil. Síndrome de Martin-Bell. Revisão. Registros Médicos |
title_short |
X Fragile Syndrome: brief review and case report |
title_full |
X Fragile Syndrome: brief review and case report |
title_fullStr |
X Fragile Syndrome: brief review and case report |
title_full_unstemmed |
X Fragile Syndrome: brief review and case report |
title_sort |
X Fragile Syndrome: brief review and case report |
author |
Amaral, Laiamma Ribeiro do |
author_facet |
Amaral, Laiamma Ribeiro do Soares Melo, Hugo Christiano |
author_role |
author |
author2 |
Soares Melo, Hugo Christiano |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Amaral, Laiamma Ribeiro do Soares Melo, Hugo Christiano |
dc.subject.por.fl_str_mv |
Síndrome do X-Frágil. Síndrome de Martin-Bell. Revisão. Registros Médicos |
topic |
Síndrome do X-Frágil. Síndrome de Martin-Bell. Revisão. Registros Médicos |
description |
X Fragile Syndrome is pointed as the greatest cause of inherited mental retardation, and the second most common genetic cause of mental retardation. It reaches all ethnic groups and races, but with low prevalence. It is estimated that one on every 1000 male births carries the syndrome and that one on every 2000 female born alive is affected. Although not specific, numerous physical and cognitive changes may be related to the syndrome, such as mental deficiency, facial dysmorphism and behavioral changes. This study aimed to briefly review the available literature about X Fragile Syndrome and present a case report of a newborn diagnosed with the disease. Thus, Brazilian databases were consulted and, to assist in the diagnosis of other individuals who may have the syndrome, an ethics committee approved the clinical report in order to bring public initial symptomatology, clinical exams and evolution of a patient with X Fragile Syndrome. It is necessary to acquire the syndrome’s diagnosis as soon as possible, since it has no cure and the treatment consists of improving and prolonging the quality of life of the affected patient. Genetic counseling is also indicated in most cases to prevent further onset of the syndrome.Keywords: Martin-Bell syndrome. Review. Medical records. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-12-19 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://periodicos.unoesc.edu.br/evidencia/article/view/16146 10.18593/eba.v17i2.16146 |
url |
https://periodicos.unoesc.edu.br/evidencia/article/view/16146 |
identifier_str_mv |
10.18593/eba.v17i2.16146 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://periodicos.unoesc.edu.br/evidencia/article/view/16146/pdf |
dc.rights.driver.fl_str_mv |
Copyright (c) 2017 Evidência - Ciência e Biotecnologia info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2017 Evidência - Ciência e Biotecnologia |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade do Oeste de Santa Catarina |
publisher.none.fl_str_mv |
Universidade do Oeste de Santa Catarina |
dc.source.none.fl_str_mv |
Evidence; Vol. 17 No. 2 (2017): Evidência - Ciência e Biotecnologia; 135-150 Evidência; v. 17 n. 2 (2017): Evidência - Ciência e Biotecnologia; 135-150 2236-6059 1519-5287 10.18593/eba.v17i2 reponame:Evidência - Ciência e Biotecnologia - Interdisciplinar instname:Universidade do Oeste de Santa Catarina (UNOESC) instacron:UNOESC |
instname_str |
Universidade do Oeste de Santa Catarina (UNOESC) |
instacron_str |
UNOESC |
institution |
UNOESC |
reponame_str |
Evidência - Ciência e Biotecnologia - Interdisciplinar |
collection |
Evidência - Ciência e Biotecnologia - Interdisciplinar |
repository.name.fl_str_mv |
Evidência - Ciência e Biotecnologia - Interdisciplinar - Universidade do Oeste de Santa Catarina (UNOESC) |
repository.mail.fl_str_mv |
editora@unoesc.edu.br||evidencia@unoesc.edu.br||jane.gelinski@unoesc.edu.br|| debora.pereira@unoesc.edu.br |
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