First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type

Authors

  • V Quinzi Department of Life, Health and Environmental Sciences, Postgraduate School of Orthodontics, University of L'Aquila
  • C De Luca Human Genetics Laboratory, Department of Life, Health and Environmental Sciences, University of L'Aquila
  • F Giovannetti Maxillofacial Surgery, Department of Life, Health and Environmental Sciences, University of L'Aquila
  • A Splendiani Radiology Unit, Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila
  • D Cocciadiferro Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome
  • R Capolino Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome
  • F Brancati Human Genetics Laboratory, Department of Life, Health and Environmental Sciences, University of L'Aquila, Italy - San Raffaele Roma IRCCS, Rome
  • G Marzo Department of Life, Health and Environmental Sciences, Postgraduate School of Orthodontics, University of L'Aquila

DOI:

https://doi.org/10.23804/ejpd.2023.24.04.03

Keywords:

EFTUD2 gene, mandibulofacial dysostosis Guion-Almeida type (MFDGA), genotype–phenotype correlation

Abstract

BACKGROUND: Mandibulofacial dysostosis Guion-Almeida Type (MFDGA; OMIM#610536) is a rare autosomal dominant genetic disorder caused by heterozygous pathogenic variants in the EFTUD2 gene. Mandibulofacial dysostoses are characterised by the core triad malar hypoplasia, maxillary hypoplasia and dysplastic ears, all derived by the impaired development of the first and second branchial arches. Differential diagnosis is often challenging. The early genetic diagnosis is extremely useful, not only for the correct management of cranial malformations, but also for the early diagnosis and treatment of the comorbidities associated to the disease, which greatly benefit from early treatment.