Cleidocranial dysplasia- case report
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Research, Society and Development |
Texto Completo: | https://rsdjournal.org/index.php/rsd/article/view/8052 |
Resumo: | Cleidocranial dysplasia (CCD) is a rare syndrome, occurring at a rate of 1:10,000,000 in the form presented in this clinical case. This syndrome occurs due to an autosomal dominant inheritance characterized by changes in skeletal formation and development, as a result of a mutation associated with the RUNX2 gene, the main regulatory gene for osteoblastic differentiation, resulting in manifestations such as hypoplastic or aplastic clavicles, brachycephaly, hypoplasia of the middle third of the face, and delay or non-closure of fontanelles. Specifically, in the intraoral region, atypical dental manifestations occur, such as failure in the exfoliation of the primary dentition, delayed eruption of permanent teeth, and multiple supernumerary teeth. Thus, this study aims to present a case report of a patient with the pathognomonic characteristics of the syndrome in its rarest form, as well as the radiographic, imaging and clinical manifestations that allow its diagnosis and a discussion on the common manifestations in such patients, forms of treatment, and the conduct of treatment according to the specific needs of that case.. |
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Cleidocranial dysplasia- case reportDisplasia cleidocraneal- reporte de casoDisplasia cleidocraniana- relato de casoDisplasia cleidocranianaDentesClavícula.Cleidocranial dysplasiaTeethClavicle.Displasia CleidocranianaDentesClavicula.Cleidocranial dysplasia (CCD) is a rare syndrome, occurring at a rate of 1:10,000,000 in the form presented in this clinical case. This syndrome occurs due to an autosomal dominant inheritance characterized by changes in skeletal formation and development, as a result of a mutation associated with the RUNX2 gene, the main regulatory gene for osteoblastic differentiation, resulting in manifestations such as hypoplastic or aplastic clavicles, brachycephaly, hypoplasia of the middle third of the face, and delay or non-closure of fontanelles. Specifically, in the intraoral region, atypical dental manifestations occur, such as failure in the exfoliation of the primary dentition, delayed eruption of permanent teeth, and multiple supernumerary teeth. Thus, this study aims to present a case report of a patient with the pathognomonic characteristics of the syndrome in its rarest form, as well as the radiographic, imaging and clinical manifestations that allow its diagnosis and a discussion on the common manifestations in such patients, forms of treatment, and the conduct of treatment according to the specific needs of that case..A displasia cleidocraniana (CCD) é uma síndrome rara, ocorrendo a uma taxa de 1: 10.000.000 na forma apresentada neste caso clínico. Essa síndrome ocorre devido a uma herança autossômica dominante caracterizada por alterações na formação e desenvolvimento esquelético, em decorrência de uma mutação associada ao gene RUNX2, principal gene regulação da diferenciação osteoblástica, resultando em manifestações como clavículas hipoplásicas ou apláções doplasia da face e retardo ou não fechamento das fontanelas. Especificamente, na região intraoral, ocorrem manifestações dentárias atípicas, como falha na esfoliação da dentição decídua, erupção tardia dos dentes permanentes e múltiplos dentes supranumerários. Assim, este estudo tem como objetivo apresentar o relato de caso de um paciente com as características patognomônicas da síndrome em sua forma mais rara, bem como as manifestações radiográficas, de imagem e clínicas que permitem o seu diagnóstico e uma discusão sobre as manifestações comuns nesses pacientes. Formas de tratamento, e a condução do tratamento de acordo com as necessidades específicas daquele caso.A displasia cleidocraniana (CCD) é uma síndrome rara, ocorrendo a uma taxa de 1: 10.000.000 na forma apresentada neste caso clínico. Essa síndrome ocorre devido a uma herança autossômica dominante caracterizada por alterações na formação e desenvolvimento esquelético, em decorrência de uma mutação associada ao gene RUNX2, principal gene regulador da diferenciação osteoblástica, resultando em manifestações como clavículas hipoplásicas ou aplásticas, braquicefalia, hipoplasia do terço médio da face e retardo ou não fechamento das fontanelas. Especificamente, na região intraoral, ocorrem manifestações dentárias atípicas, como falha na esfoliação da dentição decídua, erupção tardia dos dentes permanentes e múltiplos dentes supranumerários. Assim, este estudo tem como objetivo apresentar o relato de caso de um paciente com as características patognomônicas da síndrome em sua forma mais rara, bem como as manifestações radiográficas, de imagem e clínicas que permitem o seu diagnóstico e uma discussão sobre as manifestações comuns nesses pacientes. formas de tratamento, e a condução do tratamento de acordo com as necessidades específicas daquele caso.Research, Society and Development2020-09-13info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/805210.33448/rsd-v9i9.8052Research, Society and Development; Vol. 9 No. 9; e916998052Research, Society and Development; Vol. 9 Núm. 9; e916998052Research, Society and Development; v. 9 n. 9; e9169980522525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIenghttps://rsdjournal.org/index.php/rsd/article/view/8052/7193Copyright (c) 2020 Eleonor Álvaro Garbin Júnior; Anna Carolina Jaccottet Oliveira; Niviane Dorigan Vidor; Mauro Carlos Agner Busato; Geraldo Luiz Griza; Ricardo Augusto Concihttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessGarbin Júnior, Eleonor ÁlvaroOliveira, Anna Carolina Jaccottet Vidor, Niviane Dorigan Busato, Mauro Carlos AgnerGriza, Geraldo LuizConci, Ricardo Augusto2020-09-18T01:42:11Zoai:ojs.pkp.sfu.ca:article/8052Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:30:36.939725Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false |
dc.title.none.fl_str_mv |
Cleidocranial dysplasia- case report Displasia cleidocraneal- reporte de caso Displasia cleidocraniana- relato de caso |
title |
Cleidocranial dysplasia- case report |
spellingShingle |
Cleidocranial dysplasia- case report Garbin Júnior, Eleonor Álvaro Displasia cleidocraniana Dentes Clavícula. Cleidocranial dysplasia Teeth Clavicle. Displasia Cleidocraniana Dentes Clavicula. |
title_short |
Cleidocranial dysplasia- case report |
title_full |
Cleidocranial dysplasia- case report |
title_fullStr |
Cleidocranial dysplasia- case report |
title_full_unstemmed |
Cleidocranial dysplasia- case report |
title_sort |
Cleidocranial dysplasia- case report |
author |
Garbin Júnior, Eleonor Álvaro |
author_facet |
Garbin Júnior, Eleonor Álvaro Oliveira, Anna Carolina Jaccottet Vidor, Niviane Dorigan Busato, Mauro Carlos Agner Griza, Geraldo Luiz Conci, Ricardo Augusto |
author_role |
author |
author2 |
Oliveira, Anna Carolina Jaccottet Vidor, Niviane Dorigan Busato, Mauro Carlos Agner Griza, Geraldo Luiz Conci, Ricardo Augusto |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Garbin Júnior, Eleonor Álvaro Oliveira, Anna Carolina Jaccottet Vidor, Niviane Dorigan Busato, Mauro Carlos Agner Griza, Geraldo Luiz Conci, Ricardo Augusto |
dc.subject.por.fl_str_mv |
Displasia cleidocraniana Dentes Clavícula. Cleidocranial dysplasia Teeth Clavicle. Displasia Cleidocraniana Dentes Clavicula. |
topic |
Displasia cleidocraniana Dentes Clavícula. Cleidocranial dysplasia Teeth Clavicle. Displasia Cleidocraniana Dentes Clavicula. |
description |
Cleidocranial dysplasia (CCD) is a rare syndrome, occurring at a rate of 1:10,000,000 in the form presented in this clinical case. This syndrome occurs due to an autosomal dominant inheritance characterized by changes in skeletal formation and development, as a result of a mutation associated with the RUNX2 gene, the main regulatory gene for osteoblastic differentiation, resulting in manifestations such as hypoplastic or aplastic clavicles, brachycephaly, hypoplasia of the middle third of the face, and delay or non-closure of fontanelles. Specifically, in the intraoral region, atypical dental manifestations occur, such as failure in the exfoliation of the primary dentition, delayed eruption of permanent teeth, and multiple supernumerary teeth. Thus, this study aims to present a case report of a patient with the pathognomonic characteristics of the syndrome in its rarest form, as well as the radiographic, imaging and clinical manifestations that allow its diagnosis and a discussion on the common manifestations in such patients, forms of treatment, and the conduct of treatment according to the specific needs of that case.. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-09-13 |
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://rsdjournal.org/index.php/rsd/article/view/8052 10.33448/rsd-v9i9.8052 |
url |
https://rsdjournal.org/index.php/rsd/article/view/8052 |
identifier_str_mv |
10.33448/rsd-v9i9.8052 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://rsdjournal.org/index.php/rsd/article/view/8052/7193 |
dc.rights.driver.fl_str_mv |
https://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Research, Society and Development |
publisher.none.fl_str_mv |
Research, Society and Development |
dc.source.none.fl_str_mv |
Research, Society and Development; Vol. 9 No. 9; e916998052 Research, Society and Development; Vol. 9 Núm. 9; e916998052 Research, Society and Development; v. 9 n. 9; e916998052 2525-3409 reponame:Research, Society and Development instname:Universidade Federal de Itajubá (UNIFEI) instacron:UNIFEI |
instname_str |
Universidade Federal de Itajubá (UNIFEI) |
instacron_str |
UNIFEI |
institution |
UNIFEI |
reponame_str |
Research, Society and Development |
collection |
Research, Society and Development |
repository.name.fl_str_mv |
Research, Society and Development - Universidade Federal de Itajubá (UNIFEI) |
repository.mail.fl_str_mv |
rsd.articles@gmail.com |
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1797052803712024576 |