目的　探讨Coffin-Siris 综合征的临床表型及基因异常。方法　回顾分析1例利用高通量测序技术确诊的 Coffin-Siris 综合征患儿的临床资料，并复习相关文献。结果　患儿，男，生后即出现喂养困难、生长发育落后伴特殊面容。 基因检测显示ARID1B基因c.6683C>A（p.Ser2228*）变异，为新发变异，预测有致病性。结论　Coffin-Siris 综合征为罕见 遗传性疾病，早期临床诊断困难，基因检测有助确诊。

Objective　To explore the clinical phenotype and gene abnormality of Coffin-Siris syndrome. Method　The clinical data of Coffin-Siris syndrome in a child diagnosed by high-throughput sequencing technology were retrospectively analyzed, and the related literature was reviewed. Results　A male child had feeding difficulties, growth retardation and special facial features after birth. Gene detection showed a mutation of c.6683C>A (p.Ser2228*) in ARID1B gene, , which was a de novo mutation and predicted to be pathogenic. Conclusion　Coffin-Siris syndrome is a rare genetic disease and is difficult to diagnose in early stage, and genetic testing helps the diagnosis.