指甲-髌骨综合征影像学1例报道及文献复习

Nail-Patella Syndrome:Imaging Report of a Case and Review of Literature

目的:提高罕见病指甲-髌骨综合征的认识,明确其诊断方法。材料与方法:结合文献报告病例复习,对本例临床、影像学征象进行分析。结果:指甲-髌骨综合征本病临床及影像学表现典型:指甲发育障碍,髂骨角、膝关节及肘关节发育不良四联症。可伴有脊椎裂及眼、肾多系统受累表现。结论:结合临床表现,本病影像学特征明显,是诊断本病的主要、最佳检查手段。

Purpose： to improve the knowledge of rare diseases nails-patellar syndrome, clear its diagnostic method. Materials and Methods： Clinical and imaging manifestations were analyzed for this example combined with literature reported and cases review. Results： nails-patellar syndrome, the disease clinical and imaging findings characteristic showed ： fingernail developmental disorders, Angle of ilium, knee and elbow dysplasia quadruple, it may be accompanied by spinal bifida and eye, kidney multi-system involvement and performance. Conclusion： combined with clinical manifestations, imaging features is obvious of the disease, and is the main diagnosis of the disease and the best examination method.