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Article

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

1
Medical-Surgical Dentistry Research Group (OMEQUI), Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela (USC), 15782 Santiago de Compostela, Spain
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Department of Stomatology IV, School of Dentistry, University Complutense de Madrid, 28040 Madrid, Spain
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Department of Stomatology, University Hospital Doctor Peset-FISABIO, 46017 Valencia, Spain
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Department of Special Care in Dentistry, School of Dentistry, University of Seville, 41009 Sevilla, Spain
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Service of Pediatric Dentistry, Barcelona University Children’s Hospital HM Nens, 08009 Barcelona, Spain
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Service of Special Care in Dentistry, Quirón Hospital, 200012 San Sebastián, Spain
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Service of Neuropediatrics, University Hospital Central de Asturias, 33011 Oviedo, Spain
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Medical and Molecular Genetics Institute (INGEMM), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain
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Institute of Rare Diseases Research (IIER) & Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain
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ERN (European Reference Network)-ITHACA, La Paz University Hospital, 28046 Madrid, Spain
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(11), 3556; https://doi.org/10.3390/jcm9113556
Received: 24 September 2020 / Revised: 30 October 2020 / Accepted: 31 October 2020 / Published: 4 November 2020
(This article belongs to the Special Issue Oral Health for Special Needs, Compromised and Elderly Patients)
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. View Full-Text
Keywords: Wolf-Hirschhorn syndrome; 4p-; stomatognathic diseases; oral manifestations; genotype Wolf-Hirschhorn syndrome; 4p-; stomatognathic diseases; oral manifestations; genotype
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MDPI and ACS Style

Limeres, J.; Serrano, C.; De Nova, J.M.; Silvestre-Rangil, J.; Machuca, G.; Maura, I.; Cruz Ruiz-Villandiego, J.; Diz, P.; Blanco-Lago, R.; Nevado, J.; Diniz-Freitas, M. Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis. J. Clin. Med. 2020, 9, 3556. https://doi.org/10.3390/jcm9113556

AMA Style

Limeres J, Serrano C, De Nova JM, Silvestre-Rangil J, Machuca G, Maura I, Cruz Ruiz-Villandiego J, Diz P, Blanco-Lago R, Nevado J, Diniz-Freitas M. Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis. Journal of Clinical Medicine. 2020; 9(11):3556. https://doi.org/10.3390/jcm9113556

Chicago/Turabian Style

Limeres, Jacobo, Candela Serrano, Joaquin M. De Nova, Javier Silvestre-Rangil, Guillermo Machuca, Isabel Maura, Jose Cruz Ruiz-Villandiego, Pedro Diz, Raquel Blanco-Lago, Julian Nevado, and Marcio Diniz-Freitas. 2020. "Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis" Journal of Clinical Medicine 9, no. 11: 3556. https://doi.org/10.3390/jcm9113556

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