指甲-髌骨综合征的临床及X线征象探讨(附一家族6例报告及文献复习)  

Clinical and X-ray Features of Nail-Patella Syndrome:A Report of 6 Cases with Literature Review

作　　者：缪小芬[1] 王鸿帼[2] 陆健 孙春峰[1] 

机构地区：[1]南通市第三人民医院放射科,江苏南通226006 [2]南通大学附属医院影像中心

出　　处：《实用放射学杂志》2006年第4期424-426,共3页Journal of Practical Radiology

摘　　要：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 recognition of nail- patella syndrome （ NPS）. Methods The pathological, clinical and x -ray features of NPS in 6 cases were analysed with literature reviewed. Results The main diagnostic features of NPS included ： （ 1） There were nail dysplasia and family history; （2） The pathological changes were bilateral, multiple bone and multiple systems involved; （3） Patients had a characteristic tetrad involving the nails, knees, elbows and the presence of iliac horns. Conclusion Based on the typical x - ray findings combined with clinical characteristics, nail -patella syndrome can he suggested. Radiography is one of the best methods for the diagnosis of this disease.

关 键 词：指甲-髌骨综合征 常染色体显性遗传性病变 放射摄影术 

分 类 号：R681[医药卫生—骨科学] R596[医药卫生—外科学]