指甲—髌骨综合征——附一家族5例报告

NAIL—PATELLA SYNDROME (REPORT OF 5 CASES IN A FAMILY)

报道了一家族5例指甲髌骨综合征。该综合征系单基因常染色体显性遗传病,临床上以指甲、髌骨、肘关节、髂骨及肾脏病变最常见,并多伴有心脏、皮肤及眼部损害等,具有结缔组织疾病的特点。目前,临床上无有效的治疗方法。

5 cases with nail-patella syndrome in a family are reported.This syndrome is a monogenic autosomal dominant inheritance disease.In clinic,the common lesions are nail,patella,elbow joint,ilium and kidney,and the most of them have injuries of heart,skin and eyes,and this syndrome has some characteristics of desmosis at pres- ent,it yet hasn't effective therapy.