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The impact of genetics on craniofacial dysplasias and consequent oral malformations: integrative review

2026-01-27Recensão Acesso aberto
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datacite.subject.fosCiências Médicas
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorLopes Cardoso, Inês
dc.contributor.authorGuimarães, Maria Inês
dc.contributor.authorTouboul, Laura
dc.contributor.authorC. Leal, M. Fernanda
dc.contributor.editorVia, Marc
dc.date.accessioned2026-05-11T12:02:41Z
dc.date.available2026-05-11T12:02:41Z
dc.date.issued2026-01-27
dc.description.abstractBackground/Objectives: Diseases affecting the craniofacial skeleton are normally associated with disturbances in the regulation of cellular differentiation, the development of bone structures, and changes in bone density and ossification. Thus, the objective of this integrative review is to evaluate the published scientific literature from the last 8 years concerning the impact of genetics on some craniofacial dysplasias. Our aim covers the identification of oral cavity alterations to those dysplasias, through the most common oro-facial manifestations. Three dysplasias were selected to be part of this integrative review: cleidocranial dysplasia, ectodermal dysplasia and Apert syndrome. Methods: For this purpose, a bibliographic search was performed in the PubMed, ScienceDirect, Web of Sci-ence and Google Scholar databases with several keywords combined with each other. The research question of this review was as follows: “What is the impact of genetic factors on the development of craniofacial dysplasias and associated oral malformations?”. Results: After selecting the articles through the application of inclusion and exclusion criteria, 11 articles were selected for this review. Conclusions: Genetics plays a crucial role in cranio-facial dysplasias and subsequent oral malformations. The main conclusion was that mutations in different genes can lead to identical phenotypes, while mutations in the same gene can present slight phenotypic differences depending on where they occur. In the future, it would be important to conduct studies with larger samples and control groups that include genetic testing to allow for a more comprehensive study on the impact of genetics on craniofacial dysplasias.eng
dc.identifier.citationCardoso, I. L., Guimarães, M. I., Touboul, L., & Leal, F. (2026). The impact of genetics on craniofacial dysplasias and consequent oral malformations: integrative review. Genes, 17, 140
dc.identifier.doi10.3390/genes17020140
dc.identifier.issn20734425
dc.identifier.urihttp://hdl.handle.net/10284/15415
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relation.hasversionhttps://www.mdpi.com/2073-4425/17/2/140
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectGenetics
dc.subjectCraniofacial dysplasia
dc.subjectCleidocranial dysplasia
dc.subjectEctodermal dysplasia
dc.subjectApert syndrome
dc.subjectOral manifestations
dc.titleThe impact of genetics on craniofacial dysplasias and consequent oral malformations: integrative revieweng
dc.typereview
dspace.entity.typePublication
oaire.citation.issue140
oaire.citation.titleGenes
oaire.citation.volume17
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameLopes Cardoso
person.familyNameGuimarães
person.familyNameC. Leal
person.givenNameInês
person.givenNameMaria Inês
person.givenNameM. Fernanda
person.identifier.ciencia-idF21F-16B4-3715
person.identifier.ciencia-id5416-2525-4C8B
person.identifier.orcid0000-0002-0693-9831
person.identifier.orcid0000-0003-3687-7798
person.identifier.orcid0000-0002-0118-9007
person.identifier.ridM-7156-2013
person.identifier.scopus-author-id54973754300
person.identifier.scopus-author-id57213512502
relation.isAuthorOfPublicationf39fa18f-2d23-4690-bfa2-f8ba53e40775
relation.isAuthorOfPublication54d88a9d-f83b-4cce-8cc5-aac9ed7e701b
relation.isAuthorOfPublicationcc0577f5-b02f-43ab-a135-b296ef6da8ac
relation.isAuthorOfPublication.latestForDiscoveryf39fa18f-2d23-4690-bfa2-f8ba53e40775

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