目的提高对罕见病指甲-髌骨综合征的认识。方法结合文献复习,对6例该病的病理、临床及X线征象进行分析。结果本病的诊断要点为:(1)指甲发育异常及家族史;(2)病变为双侧性,多骨、多系统受累;(3)指甲、髂骨角、膝和肘部畸形为典型四联征表现。结论本病有典型的临床及X线表现,诊断并不困难,X线是诊断该病的主要检查手段。 Objective To improve the understanding of rare disease nails - patella syndrome. Methods Combined with literature review, pathological, clinical and X-ray findings of 6 cases were analyzed. Results The main points of diagnosis of this disease were: (1) abnormal nail development and family history; (2) bilateral, multiple bony and multiple system involvement; (3) nails, iliac horn, knee and elbow deformities were typical Quadruple levy performance. Conclusion The disease has a typical clinical and X-ray findings, diagnosis is not difficult, X-ray is the main diagnostic tool for the disease.