Findings from University of Aquila in the Area of Mandibulofacial Dysostosis Described (First and Second Branchial Arch Involvement In Mandibulofacial Dysostosis Guion-almeida Type).

A recent report from the University of Aquila in Italy discusses the findings on Mandibulofacial Dysostosis, a rare genetic disorder caused by pathogenic variants in the EFTUD2 gene. The disorder is characterized by malar hypoplasia, maxillary hypoplasia, and dysplastic ears, which result from impaired development of the first and second branchial arches. Early genetic diagnosis is crucial for managing cranial malformations and treating associated comorbidities. The research emphasizes the importance of early treatment for improved outcomes. [Extracted from the article]