目的　探讨新生儿M?bius综合征的临床及遗传学特征。方法　回顾分析1例新生儿单侧M?bius综合征患儿 的临床资料，并复习相关文献。结果　女性患儿，生后即发现左侧面神经及外展神经麻痹表现。振幅整合脑电图及听觉脑 干诱发电位均异常。全外显子检测未发现可以解释患儿表型的致病或疑似致病变异，检测出AGRN基因变异。患儿于出生 第8天自动出院后当日死亡。结论　新生儿M?bius综合征诊断目前仍基于临床表现，可存在其他发育异常或综合征，尽早 开始综合康复治疗，多数仍可改善预后。

　Objective　To explore the clinical and genetic characteristics of M?bius syndrome in neonates. Methods　The clinical data of a neonate with unilateral M?bius syndrome was retrospectively analyzed, and the relevant literature was reviewed. Results　A female neonate manifested with paralysis of the left facial nerve and abducens nerve immediately after birth. Amplitude integrated electroencephalogram and auditory brainstem evoked potential were abnormal. No pathogenic variations accounting for the phenotypes of the patient were found by whole exome sequencing. Two compound heterogenous mutations in AGRN gene were identified. The baby was hospitalized for 8 days and died on the day of her own discharge. Conclusions　The diagnosis of neonatal M?bius syndrome is still based on clinical manifestations. There may be other developmental abnormalities or syndromes. Comprehensive rehabilitation treatment should be started as early as possible to improve prognosis.