CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES

Detalhes bibliográficos
Autor(a) principal: Ribeiro, João Marcos Marcelino Chaves
Data de Publicação: 2017
Outros Autores: Almeida, João Paulo Chevrand Latini de, Ferreira Júnior, Wellington dos Santos, Coutinho, Marcelo Paula, Pena, Igor Leal
Tipo de documento: Artigo
Idioma: por
Título da fonte: Revista Científica da Faculdade de Medicina de Campos
Texto Completo: https://www.fmc.br/ojs/index.php/RCFMC/article/view/36
Resumo: The cleft lip and cleft palate (FL / P) is a congenital malformation, caused by a lack of fusion of the palate, resulting in an abnormal facial appearance and speech losses being included among the most common craniofacial anomalies studied by this research. Objective: Analyze an association of genetic dysmorphisms in the process of lip and cleft palate in patients treated at the genetic service of Campos dos Goytacazes by means of epidemiological data. Methods: This is an observational, documentary and cross-sectional study that evaluates a sample of patients served in CRTCA-2- Genetic Service using the medical record in the Datagenno database. Results: There was a prevalence of 1 case in 91 patients attended, predominantly in female compared to male (61.64% versus 38.36%). It was noticed an increase in incidence of 50% in cases occurring between 2013 and 2016. In addition, it evident the importance of family history and episodes of spontaneous abortion in 29.17% of mothers. Besides that, it was verified and Apgar alteration. There were also concomitants related in 53.85% of the cases and chromosomal changes in 87.5% of the subtopics to karyotyping as the gain in the 22q11.2 locus characteristic of the Velocardiofacial Syndrome.
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spelling CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZESANÁLISE CLÍNICA E EPIDEMIOLÓGICA DE FISSURAS LABIAL E PALATINA ASSOCIADAS A OUTRAS DISMORFIAS NO MUNICÍPIO DE CAMPOS DOS GOYTACAZEScongênitascariotipagemmalformaçãoThe cleft lip and cleft palate (FL / P) is a congenital malformation, caused by a lack of fusion of the palate, resulting in an abnormal facial appearance and speech losses being included among the most common craniofacial anomalies studied by this research. Objective: Analyze an association of genetic dysmorphisms in the process of lip and cleft palate in patients treated at the genetic service of Campos dos Goytacazes by means of epidemiological data. Methods: This is an observational, documentary and cross-sectional study that evaluates a sample of patients served in CRTCA-2- Genetic Service using the medical record in the Datagenno database. Results: There was a prevalence of 1 case in 91 patients attended, predominantly in female compared to male (61.64% versus 38.36%). It was noticed an increase in incidence of 50% in cases occurring between 2013 and 2016. In addition, it evident the importance of family history and episodes of spontaneous abortion in 29.17% of mothers. Besides that, it was verified and Apgar alteration. There were also concomitants related in 53.85% of the cases and chromosomal changes in 87.5% of the subtopics to karyotyping as the gain in the 22q11.2 locus characteristic of the Velocardiofacial Syndrome.          A fenda ou fissura labial e palatina (FL/P) é uma malformação congênita, provocada pela falta de fusão do palato, que resulta em uma aparência facial anormal e defeitos na fala sendo incluída entre as anomalias craniofaciais mais comuns e estudadas por essa pesquisa. Objetivo: analisar a associação de dismorfias genéticas no processo de Sequência do Lábio e Fenda Palatina nos pacientes atendidos no serviço de genética de Campos dos Goytacazes por meio de dados epidemiológicos.  Métodos: Trata-se de um estudo observacional, documental e transversal com avaliação de uma amostra de pacientes atendidos no CRTCA-2- Serviço de Genética utilizando prontuário descritos no banco de dados Datagenno. Resultados: Houve uma prevalência de 1 caso a cada 91 pacientes atendidos, predominantemente no sexo feminino comparado ao masculino (61,64% versus 38,36%). Observa-se um aumento da incidência com 50% dos casos acontecidos entre os anos de 2013 a 2016. Somado a isso, é evidente a importância da história familiar e episódios de aborto espontâneo em 29,17% das mães verificadas. Além disso, verificou-se alteração no Apgar. Evidenciou-se também alterações congênitas relacionadas em 53,85% dos casos e alteração cromossomial em 87,5% dos submetidos à cariotipagem como o ganho no locus 22q11.2 característico da Síndrome Velocardiofacial.Faculdade de Medicina de Campos (FMC)2017-07-31info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.fmc.br/ojs/index.php/RCFMC/article/view/3610.29184/1980-7813.rcfmc.36.vol.12.n1.2017Scientific Journal of the Medical School of Campos; Vol. 12 No. 1 (2017); 07-14Revista Científica da Faculdade de Medicina de Campos; v. 12 n. 1 (2017); 07-141980-7813reponame:Revista Científica da Faculdade de Medicina de Camposinstname:Faculdade de Medicina de Campos (FMC)instacron:FMCporhttps://www.fmc.br/ojs/index.php/RCFMC/article/view/36/135Copyright (c) 2017 Revista Científica da Faculdade de Medicina de Camposinfo:eu-repo/semantics/openAccessRibeiro, João Marcos Marcelino ChavesAlmeida, João Paulo Chevrand Latini deFerreira Júnior, Wellington dos SantosCoutinho, Marcelo PaulaPena, Igor Leal2017-12-12T17:30:29Zoai:ojs.www.fmc.br:article/36Revistahttps://www.fmc.br/ojs/index.php/RCFMC/PRIhttps://www.fmc.br/ojs/index.php/RCFMC/oai||revista@fmc.br1980-78131980-7813opendoar:2017-12-12T17:30:29Revista Científica da Faculdade de Medicina de Campos - Faculdade de Medicina de Campos (FMC)false
dc.title.none.fl_str_mv CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES
ANÁLISE CLÍNICA E EPIDEMIOLÓGICA DE FISSURAS LABIAL E PALATINA ASSOCIADAS A OUTRAS DISMORFIAS NO MUNICÍPIO DE CAMPOS DOS GOYTACAZES
title CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES
spellingShingle CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES
Ribeiro, João Marcos Marcelino Chaves
congênitas
cariotipagem
malformação
title_short CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES
title_full CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES
title_fullStr CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES
title_full_unstemmed CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES
title_sort CLINICAL AND EPIDEMIOLOGICAL ANALYSIS OF LABIAL AND PALATIN FISSURES ASSOCIATED WITH OTHER DISMORPHIES IN THE MUNICIPALITY OF CAMPOS DOS GOYTACAZES
author Ribeiro, João Marcos Marcelino Chaves
author_facet Ribeiro, João Marcos Marcelino Chaves
Almeida, João Paulo Chevrand Latini de
Ferreira Júnior, Wellington dos Santos
Coutinho, Marcelo Paula
Pena, Igor Leal
author_role author
author2 Almeida, João Paulo Chevrand Latini de
Ferreira Júnior, Wellington dos Santos
Coutinho, Marcelo Paula
Pena, Igor Leal
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Ribeiro, João Marcos Marcelino Chaves
Almeida, João Paulo Chevrand Latini de
Ferreira Júnior, Wellington dos Santos
Coutinho, Marcelo Paula
Pena, Igor Leal
dc.subject.por.fl_str_mv congênitas
cariotipagem
malformação
topic congênitas
cariotipagem
malformação
description The cleft lip and cleft palate (FL / P) is a congenital malformation, caused by a lack of fusion of the palate, resulting in an abnormal facial appearance and speech losses being included among the most common craniofacial anomalies studied by this research. Objective: Analyze an association of genetic dysmorphisms in the process of lip and cleft palate in patients treated at the genetic service of Campos dos Goytacazes by means of epidemiological data. Methods: This is an observational, documentary and cross-sectional study that evaluates a sample of patients served in CRTCA-2- Genetic Service using the medical record in the Datagenno database. Results: There was a prevalence of 1 case in 91 patients attended, predominantly in female compared to male (61.64% versus 38.36%). It was noticed an increase in incidence of 50% in cases occurring between 2013 and 2016. In addition, it evident the importance of family history and episodes of spontaneous abortion in 29.17% of mothers. Besides that, it was verified and Apgar alteration. There were also concomitants related in 53.85% of the cases and chromosomal changes in 87.5% of the subtopics to karyotyping as the gain in the 22q11.2 locus characteristic of the Velocardiofacial Syndrome.
publishDate 2017
dc.date.none.fl_str_mv 2017-07-31
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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format article
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dc.identifier.uri.fl_str_mv https://www.fmc.br/ojs/index.php/RCFMC/article/view/36
10.29184/1980-7813.rcfmc.36.vol.12.n1.2017
url https://www.fmc.br/ojs/index.php/RCFMC/article/view/36
identifier_str_mv 10.29184/1980-7813.rcfmc.36.vol.12.n1.2017
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://www.fmc.br/ojs/index.php/RCFMC/article/view/36/135
dc.rights.driver.fl_str_mv Copyright (c) 2017 Revista Científica da Faculdade de Medicina de Campos
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Copyright (c) 2017 Revista Científica da Faculdade de Medicina de Campos
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Faculdade de Medicina de Campos (FMC)
publisher.none.fl_str_mv Faculdade de Medicina de Campos (FMC)
dc.source.none.fl_str_mv Scientific Journal of the Medical School of Campos; Vol. 12 No. 1 (2017); 07-14
Revista Científica da Faculdade de Medicina de Campos; v. 12 n. 1 (2017); 07-14
1980-7813
reponame:Revista Científica da Faculdade de Medicina de Campos
instname:Faculdade de Medicina de Campos (FMC)
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reponame_str Revista Científica da Faculdade de Medicina de Campos
collection Revista Científica da Faculdade de Medicina de Campos
repository.name.fl_str_mv Revista Científica da Faculdade de Medicina de Campos - Faculdade de Medicina de Campos (FMC)
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