Limeres, JacoboSerrano, CandelaNova García, Manuel Joaquín DeSilvestre Rangil, JavierMachuca, GuillermoMaura, IsabelCruz Ruiz-Villandegio, JoseDiz Dios, PedroBlanco Lago, RaquelNevado, JulianDiniz-Freitas, Marcio2024-02-062024-02-062020Jacobo 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;10.3390/jcm9113556https://hdl.handle.net/20.500.14352/99432Background: 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 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.engjournal articlehttps://doi.org/10.3390/jcm9113556https://www.mdpi.com/2077-0383/9/11/3556open access616.31Wolf-Hirschhorn syndrome4p-Stomatognathic diseasesOral manifestationsGenotypeOdontología (Odontología)Ciencias Biomédicas32 Ciencias Médicas