Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Heterozygous mutations in the elongation factor Tu GTP-binding domain containing 2 (EFTUD2) gene have been shown to result in MFDGA. To date, there have been a total of 108 individuals reported in the literature, of whom 95 patients have a confirmed EFTUD2 mutation. The majority of individuals reported in the literature have been of White ethnic origin. Here, we report two individuals of Asian ancestry with MFDGA, each harboring a novel, pathogenic splice site variant in EFTUD2.

中文翻译：

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由两个亚洲儿童的新型EFTUD2剪接位点变异引起的下颌面发育不全的Guion-Almeida型。

下颌面骨发育不全类型的Guion-Almeida（MFDGA）是一种罕见的疾病实体，会导致由第一和第二咽弓的异常发育引起的先天性颅面畸形。MFDGA的特征是黄斑和下颌发育不全，小头畸形，发育迟缓，耳朵发育异常，面部表情独特。颅面畸形包括食道闭锁，先天性心脏病和放射线异常。已经证明，在含有2个延伸因子（EFTUD2）的延伸因子Tu GTP结合域中的杂合突变导致了MFDGA。迄今为止，文献中总共报告了108位个体，其中95位患者已确认EFTUD2突变。文献中报道的大多数人都是白人。这里，