Dental Phenotypes in Van der Woude Syndrome


Dental Phenotypes in Van der Woude Syndrome

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Van der Woude Syndrome (VWS) consists of a genetic abnormality attributed to mutations in the IRF6 gene, characterized by the presence of paramedian pits in the lower lip, cleft lip and/or palate and hypodontia. Phenotypes of the syndrome are related to the oral cavity, and then other dental anomalies would also be present in this specific syndrome.

 The aim of this study was to identify different dental phenotypes in subjects with VWS through an integrative review of the literature.

 A systematic search was conducted in Pubmed/Medline for articles which assessed dental phenotypes in van der Woude syndrome.

Six publications were selected, considering the eligibility criteria of the articles. Different dental phenotypes are described in this syndrome. Tooth agenesis is the most common phenotype and is already associated as one of the characteristics of the syndrome. However, taurodontism has also been reported with a prevalence of 46% in these patients.

It is important to understand the nature and extent of the dental phenotype variation in VWS patients, allowing an adequate approach to oral rehabilitation planning for these patients.

In the general context of the analysis of the studies, it is possible to infer that the most common dental phenotype in the VWS is tooth agenesis, especially affecting the upper lateral incisor teeth and second premolars, which were already expected, since agenesis is already considered a feature of this syndrome according to the literature.

However, the data on the prevalence of taurodontism, around 46%, draws attention and leads us to reflect if this could not be new dental phenotype to be considered, in addition to the possibility of the association of the two phenotypes, agenesis and taurodontism in this syndrome. Further confirmation of this hypothesis would require additional research investigating this phenotype in the VWS context.

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