目的　分析2例Kabuki综合征患儿的临床特征及基因诊断结果。方法　回顾分析2例Kabuki综合征患儿的 临床资料。结果　2例均为1岁余男性患儿，有特殊面容、发热惊厥表现，基因检测均提示KMT2D（或MLL2）基因突变，但 临床表型仍有差异。结论　临床疑似Kabuki综合征的患儿可进行基因检测明确诊断。

Objective　To summarize the clinical features and genetic diagnosis of Kabuki syndrome. Methods　The clinical data of Kabuki syndrome in 2 children were retrospectively analyzed. Results　Both of them were male and over 1 year old. They had special facial features and febrile convulsion. Gene detection indicated that both of them had mutation in KMT2D (or MLL2) gene, but the clinical phenotypes were different. Conclusion　Children with clinically suspected Kabuki syndrome can be confirmed by gene detection.