目的　探讨Bainbridge-Ropers综合征的临床特点。方法　回顾分析 1例 Bainbridge-Ropers综合征患儿的临 床资料及基因检测结果，并复习相关文献。结果　女性患儿，11个月，表现为喂养困难，生长障碍，发育迟缓，特殊面容（小 头畸形、弓形眉、睑裂上斜、鼻孔前倾、低位耳），尺偏手，四肢肌张力偏低。基因检测发现ASXL3基因存在新发杂合无义突 变，为c.3106（外显子12）C>T，导致蛋白质改变为 p.（Arg1036*）。 结论　基因检测有助于Bainbridge-Ropers综合征的早 期诊断。

　Objective　To explore the clinical characteristics of Bainbridge-Ropers syndrome. Method　Clinical data and gene test results of Bainbridge-Ropers syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　A girl aged 11 months had feeding difficulties, failure to thrive, developmental retardation, specific facial features (microcephaly, arched eyebrows, upslanting palpebral fissures, anteverted nares and low ear), ulnar deviation of the hands, and hypotonia of the four limbs. Genomic sequencing showed ASXL3 gene has a de novo heterozygous mutation, C. 3106 (exon 12) C > T, resulting in a protein change to P. (Arg1036*). Conclusion　Gene detection is helpful for the early diagnosis of Bainbridge-Ropers syndrome.