目的：总结Hajdu-Cheney综合征（HCS）的临床表现特点及其发病机制，实现该病的早诊断、早治疗。方法：分析1例婴儿期即发病并诊断HCS患儿的临床及随访资料，并进行相关的文献复习。结果：患儿，男，9个月。特殊面容，牙未萌出，毛发浓密，反复呼吸道感染。X线示髋关节发育不良，双股骨骨密度减低。高通量测序提示患儿父母基因型均正常，患儿NOTCH2基因34号外显子存在c.6449_6450del：p.P2150Rfs*2杂合变异，为新生突变。结论：高通量基因检测有助于实现早期诊断HCS，实施早期干预，并为优生优育提供参考。

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