关键词: 　Bainbridge-Ropers综合征；　ASXL3基因；　精神运动发育落后

Abstract: 　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.

Key words: 　Bainbridge-Ropers syndrome;　ASXL3 gene;　psychomotor retardation