Maffucci综合征一例报道及文献复习  

Maffucci syndrome: a case report and review of the literature

作　　者：高琳 吴静[1] 陈慧玲 廖岚 雷闽湘 刘泽灏[1] Gao Lin;Wu Jing;Chen Huiling;Liao Lan;Lei minxiang;Liu Zehao(Department of Endocrinology,Xiangya Hospital,Central South University,Changsha 410000,China)

机构地区：[1]湘雅医院内分泌科,长沙410000

出　　处：《中华内分泌代谢杂志》2020年第5期429-432,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：Maffucci综合征是一种以全身多发性内生软骨瘤伴发血管瘤为特征的罕见疾病。本文就1例IDH1突变的24岁女性Maffucci综合征患者病例报告进行临床分析,并复习国内外文献,提高对该病的认识。Maffucci syndrome is characterized by multiple enchondromas and multiple hemangiomas.Here we report on a 24-year-old woman who was diagnosed with Maffucci syndrome.Our report reviews the literature and outlines of the treatment and management plans for patients with this rare and potentially dangerous disease.

关 键 词：MAFFUCCI综合征 病例报告 

分 类 号：R7[医药卫生—临床医学] R5