目的　探讨鲁宾斯坦-泰比综合征（RSTS）的临床表现及遗传学特征。方法　回顾分析1例经基因检测确诊 为RSTS患儿的临床资料。结果　男性患儿， 5月余，具有眉毛粗密、高眉弓、眼裂向外下斜、内眦赘皮、眼睑下垂等特殊面容。 全外显子基因测序显示CREBBP基因存在一个错义突变c.3609G＞C(p.K1203N)；Sanger测序未发现其父母携带上述突变， 可能为新生突变。结论　发现了CREBBP基因c.3609G＞C(p.K1203N)突变位点，丰富了RSTS的基因突变谱。

　Objective　To explore the clinical and genetic characteristics of Rubinstein-Taybi syndrome (RSTS). Method The clinical data of a RSTS child diagnosed by gene test was retrospectively analyzed. Results　A male infant, more than 5 months old, had special face such as thick eyebrows, protruded supercilliary arch, down slanting palpebral fissures, epicanthus and ptosis. The whole exome sequencing revealed that there was a missense mutation of c.3609G > C (p.K1203N) in CREBBP gene. Sanger sequencing did not find that his parents carried the above mutations. It may be a new mutation. Conclusion　The mutation site of c.3609G > C (p.K1203N) in CREBBP gene was found and it enriched the gene mutation spectrum of RSTS.