Department of Life, Health and Environmental Sciences, Postgraduate School of Orthodontics, University of L'Aquila, Italy.
Human Genetics Laboratory, Department of Life, Health and Environmental Sciences, University of L'Aquila, Italy.
Eur J Paediatr Dent. 2023 Dec 1;24(4):334-336. doi: 10.23804/ejpd.2023.24.04.03.
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.
颌面部发育不全 1 型（MFDGA；OMIM#610536）是一种罕见的常染色体显性遗传疾病，由 EFTUD2 基因中的杂合致病性变异引起。颌面部发育不全的特征是颧骨发育不全、上颌骨发育不全和发育不良的耳朵，这些都是由第一和第二鳃弓发育不良引起的。鉴别诊断通常具有挑战性。早期的基因诊断非常有用，不仅可以正确管理颅面畸形，还可以早期诊断和治疗与疾病相关的合并症，早期治疗可以极大地受益。
