目的　探讨NOTCH2基因变异致Hajdu-Cheney综合征（HCS）的临床表现和致病基因特点。方法　回顾 分析1例HCS患儿的临床及随访资料，并复习相关文献。结果　患儿，男，11岁8月龄。手指末端发育异常，特殊面容， 身材偏矮，摔跤后胸椎压缩性骨折；影像学发现肢端骨溶解、颅底凹陷。高通量测序结果显示，患儿NOTCH2基因存在 c.6449_6450delCT，p.Pro2150Argfs*2杂合变异，其父母该位点的基因型均无异常，为新生突变。结论　基因检测有助于 明确诊断HCS。

　Objective　To explore the clinical manifestations and pathogenic gene characteristics of Hajdu-Cheney syndrome (HCS) caused by NOTCH2 gene mutation. Method　The clinical and follow-up data of a boy with HCS were retrospectively analyzed, and the relevant literatures were reviewed. Results　A child, male, 11 years and 8 months old, had abnormal finger terminal development, special face, short stature and compression fracture of the thoracic vertebra after fall. Imaging revealed acroosteolysis and basilar invagination. High-throughput sequencing identified a de novo heterozygous mutation of c.6449_6450delCT (p.Pro2150Argfs*2) in the NOTCH2 gene of the child, which has not been reported. Conclusion Gene detection is helpful for the diagnosis of HCS.