目的 探讨1型神经纤维瘤病（NF1）的临床表现、诊断和治疗。方法 回顾分析1例利用高通量测序技术确 诊的合并阴蒂肥大的1型神经纤维瘤病患儿的临床资料，并复习相关文献。结果 女性患儿，生后即发现牛奶咖啡斑伴阴 蒂肥大。NF1基因检测结果c,655-7-655-2delTTTATA，为新发突变，有致病性。结论 NF1同时合并外生殖器异常者临 床罕见。NF早期临床诊断困难，对疑似病例应尽早行基因检测确诊。

　Objective　To explore the clinical manifestations, diagnosis and treatment of neurofibromatosis type 1 (NF1). Method　The clinical data of NF1 diagnosed by high throughput sequencing in a child were retrospectively analyzed and the related literature were reviewed. Results　A female child was found milk coffee spots and clitoris hypertrophy immediately after birth. NF1 gene test showed C, 655-7-655-2del TTTATA, which was a new pathogenic mutation. Conclusion　NF1 combined with genital abnormalities is rare in clinic. Early diagnosis of NF is difficult, and suspected cases should be diagnosed as early as possible by genetic testing.