目的 探讨Cornelia de Lange综合征（CdLS）的临床表型及基因型特点。方法 回顾分析1例确诊CdLS患儿 的临床资料，并总结分析国内已报道病例的情况。结果 女性患儿，1岁2月龄，有特殊外貌，智力及运动发育落后，合并 四肢畸形及听力异常。基因检测发现患儿HDAC 8基因c.675C＞A（p.Y225X）存在新发杂合无义变异，根据ACMG指南 预测为致病性变异，确诊CdLS。通过对万方、维普、中国知网及PubMed数据库搜索，发现国内报道CdLS病例46例。其中 26例行基因检查，20例（76 . 9 %）存在NIPBL基因变异，3例（11 . 5 %）HDAC 8基因变异，1例（3.8%）SCM 1 A基因变异， 2 例未发现与临床吻合的致病性基因变异，表型各异。结论 CdLS患儿存在特殊外貌、生长发育迟缓、多器官受累、听力障 碍，多数可通过典型临床表型诊断，基因检测有助于非典型患者的早期诊断。

Objective To explore the clinical phenotype and genotype characteristics of Cornelia de Lange syndrome (CdLS). Methods The clinical data of Cornelia de Lange syndrome (CdLS) in a child were retrospectively analyzed, and the reported cases in domestic were summarized and analyzed. Results The 1 -year- 2 -month-old female child had special appearance, mental and motor retardation, limb deformity and hearing abnormality. A new heterozygous nonsense mutation of c. 675C>A (p.Y 225 X) was found in the HDAC 8 gene. According to ACMG guidelines, the mutation was predicted to be pathogenic, and CdLS was confirmed. The databases of Wanfang, Weipu, CNKI, and PubMed were searched, and 46 cases of CdLS were reported in China. Among the 26 children who underwent genetic examination, 20 ( 76 . 9 %) had NIPBL gene mutation, 3 ( 11 . 5 %) had HDAC8 gene mutation and 1 ( 3 . 8 %) had SCM1A gene mutation. Two patients had no pathogenic gene variations that were consistent with their clinical manifestations, and the phenotypes were different. Conclusion Children with CdLS have special appearance, growth retardation, multiple organ involvement, and hearing impairment. Most of them can be diagnosed by typical clinical phenotypes. Gene testing can help early diagnosis of atypical patients.