目的　探讨Bainbridge-Ropers综合征的临床特点及遗传学特征。方法　回顾分析1例Bainbridge-Ropers综合 征患儿的临床资料，并复习相关文献。结果　患儿，男， 1岁1个月，以精神运动发育落后、喂养困难、肌张力低下及特殊面 容为主要临床表现；全外显子基因测序显示ASXL3基因12号外显子c.3106C>T（p.R1036*）杂合突变，确诊为BainbridgeRopers综合征。目前国内外文献共报道30余例，几乎所有患者存在运动、语言及智力发育迟缓，而且程度严重。结论　 Bainbridge-Ropers综合征是一种与ASXL3基因功能缺失突变有关的疾病，主要临床特征包括精神运动发育落后、喂养困难、 肌张力低下及特殊面容。

　Objective　To explore the clinical features and genetic characteristics of Bainbridge-Ropers syndrome. Method　The clinical data of Bainbridge-Ropers syndrome in a child were retrospectively analyzed, and related literature was reviewed. Results　A boy aged 1 year and 1 month had the main clinical manifestations of psychomotor retardation, feeding difficulties, muscle hypotonia and special facial features. A heterozygous mutation c.3106C>T (p.R1036*) in exon 12 of ASXL3 gene was identified by the whole exon sequencing, and the patient was diagnosed with Bainbridge-Ropers syndrome. Currently more than 30 cases have been reported in domestic and foreign literature. Almost all patients had severe retardation in motor, language and mental development. Conclusion　Bainbridge-Ropers syndrome is a disease associated with ASXL3 gene deletion mutation. Its main clinical features include mental and motor retardation, difficulty in feeding, muscle hypotonia and special facial features.