The Impact of Genetics on Craniofacial Dysplasias and Consequent Oral Malformations—Integrative Review

TL;DR

This review explores how genetic factors influence craniofacial dysplasias and related oral malformations, focusing on three specific conditions.

Contribution

The paper provides an updated integrative review of recent literature on the genetic impact of three craniofacial dysplasias.

Findings

Genetic mutations can lead to similar phenotypes in craniofacial dysplasias.

Phenotypic differences can arise from mutations in the same gene depending on their location.

Larger studies with genetic testing are needed for a comprehensive understanding.

Abstract

Background/Objectives: Diseases affecting the craniofacial skeleton are normally associated with disturbances in the regulation of cellular differentiation, the development of bone structures, and changes in bone density and ossification. Thus, the objective of this integrative review is to evaluate the published scientific literature from the last 8 years concerning the impact of genetics on some craniofacial dysplasias. Our aim covers the identification of oral cavity alterations to those dysplasias, through the most common orofacial manifestations. Three dysplasias were selected to be part of this integrative review: cleidocranial dysplasia, ectodermal dysplasia and Apert syndrome. Methods: For this purpose, a bibliographic search was performed in the PubMed, ScienceDirect, Web of Science and Google Scholar databases with several keywords combined with each other. The research question of this review was as follows: “What is the impact of genetic factors on the development of craniofacial dysplasias and associated oral malformations?”. Results: After selecting the articles through the application of inclusion and exclusion criteria, 11 articles were selected for this review. Conclusions: Genetics plays a crucial role in craniofacial dysplasias and subsequent oral malformations. The main conclusion was that mutations in different genes can lead to identical phenotypes, while mutations in the same gene can present slight phenotypic differences depending on where they occur. In the future, it would be important to conduct studies with larger samples and control groups that include genetic testing to allow for a more comprehensive study on the impact of genetics on craniofacial dysplasias.

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