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Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis

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Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis

dc.contributor.author	Limeres Pose, Jacobo
dc.contributor.author	Serrano, Candela
dc.contributor.author	De Nova Garcia, Joaquín
dc.contributor.author	Silvestre Rangil, Javier
dc.contributor.author	Machuca Portillo, Guillermo
dc.contributor.author	Maura Solivellas, Isabel
dc.contributor.author	Ruiz Villandiego, José Cruz
dc.contributor.author	Diz Dios, Pedro
dc.contributor.author	Blanco Lago, Raquel
dc.contributor.author	Nevado, Julián
dc.contributor.author	Diniz Freitas, Marcio
dc.date.accessioned	2021-05-04T09:49:15Z
dc.date.available	2021-05-04T09:49:15Z
dc.date.issued	2020
dc.identifier.citation	Limeres Pose, Jacobo Serrano, Candela De Nova Garcia, Joaquín Silvestre Rangil, Javier Machuca Portillo, Guillermo Maura Solivellas, Isabel Ruiz Villandiego, José Cruz Diz Dios, Pedro Blanco Lago, Raquel Nevado, Julián Diniz Freitas, Marcio 2020 Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis Journal Of Clinical Medicine
dc.identifier.uri	https://hdl.handle.net/10550/79049
dc.description.abstract	Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation. Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018-2019. The study group consisted of 31 patients with WHS who underwent a standardized oral examination. Due to behavioral reasons, imaging studies were performed on only 11 of the children 6 years of age or older. All participants had previously undergone a specific medical examination for WHS, during which anatomical, functional, epilepsy-related, and genetic variables were recorded. Results: The most prevalent oral manifestations were delayed tooth eruption (74.1%), bruxism (64.5%), dental agenesis (63.6%), micrognathia (60.0%), oligodontia (45.5%), and downturned corners of the mouth (32.3%). We detected strong correlation between psychomotor delay and oligodontia (p = 0.008; Cramér's V coefficient, 0.75). The size of the deletion was correlated in a statistically significant manner with the presence of oligodontia (p = 0.009; point-biserial correlation coefficient, 0.75). Conclusion: Certain oral manifestations prevalent in WHS can form part of the syndrome's phenotypic variability. A number of the characteristics of WHS, such as psychomotor delay and epilepsy, are correlated with oral findings such as oligodontia and bruxism. Although most genotype-phenotype correlations are currently unknown, most of them seem to be associated with larger deletions, suggesting that some oral-facial candidate genes might be outside the critical WHS region, indicating that WHS is a contiguous gene syndrome.
dc.language.iso	eng
dc.relation.ispartof	Journal Of Clinical Medicine, 2020
dc.subject	Odontologia
dc.subject	Patologia
dc.title	Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
dc.type	journal article	es_ES
dc.date.updated	2021-05-04T09:49:16Z
dc.identifier.idgrec	146685
dc.rights.accessRights	open access	es_ES