RT Journal Article
T1 Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
A1 Limeres, Jacobo
A1 Serrano, Candela
A1 Nova García, Manuel Joaquín De
A1 Silvestre Rangil, Javier
A1 Machuca, Guillermo
A1 Maura, Isabel
A1 Cruz Ruiz-Villandegio, Jose
A1 Diz Dios, Pedro
A1 Blanco Lago, Raquel
A1 Nevado, Julian
A1 Diniz-Freitas, Marcio
AB Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion inthe 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 yearsof age or older. All participants had previously undergone a specific medical examinationfor 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 wascorrelated 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.
PB MDPI
YR 2020
FD 2020
LK https://hdl.handle.net/20.500.14352/99432
UL https://hdl.handle.net/20.500.14352/99432
LA eng
NO Jacobo Limeres, Candela Serrano, Joaquin Manuel de Nova, Javier Silvestre-Rangil, Guillermo Machuca, Isabel Maura, Jose Cruz Ruiz-Villandiego, Pedro Diz, Raquel Blanco-Lago, Julian Nevado and Marcio Diniz-Freitas. Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis. J. Clin. Med. 2020, 9(11), 3556;
DS Docta Complutense
RD 28 abr 2025