"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

Heterozygous mutations in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536). We present clinical and radiographic features of three additional patients with de novo heterozygous mutations in EFTUD2.. Although clinical features overlap with findings of the original report (choanal atresia, cleft palate, maxillary and mandibular hypoplasia, and microtia), microcephaly was present in two of three patients and cognitive impairment was milder in those with head circumference proportional to height. Our cases expand the phenotypic spectrum to include epibulbar dermoids and zygomatic arch clefting. We suggest that craniofacial computed tomography studies to assess cleft of zygomatic arch may assist in making this diagnosis. We recommend consideration of EFTUD2 testing in individuals with features of oculo-auriculo-vertebral spectrum and bilateral microtia, or individuals with atypical CHARGE syndrome who do not have a CHD7 mutation, particularly those with a zygomatic arch cleft. The absence of microcephaly in one patient indicates that it is a highly variable phenotypic feature.

在12名患有罕见散发性颅面疾病（小头畸形的下颌面骨发育不全，MIM 610536）的个体中发现了EFTUD2基因的杂合突变。我们介绍了另外3名EFTUD2基因发生新生杂合突变患者的临床和影像学特征。尽管临床特征与原始报告中的发现（后鼻孔闭锁、腭裂、上颌骨和下颌骨发育不全以及小耳畸形）有重叠，但3名患者中有2名存在小头畸形，且头围与身高成比例的患者认知障碍较轻。我们的病例扩展了表型谱，包括眼球表面皮样囊肿和颧弓裂。我们建议通过颅面计算机断层扫描研究来评估颧弓裂，这可能有助于做出该诊断。我们建议对具有眼耳脊椎综合征特征和双侧小耳畸形的个体，或不具有CHD7突变的非典型CHARGE综合征个体，尤其是有颧弓裂的个体，考虑进行EFTUD2检测。1名患者没有小头畸形，这表明它是一种高度可变的表型特征。