遗传性多发性骨软骨瘤前臂畸形手术治疗的研究进展  

Hereditary multiple exostoses with forearm deformity:an updated review of surgical treatment

作　　者：吴继懋 黎立[2] WU Ji-mao;LI Li(Shandong University of Traditional Chinese Medicine,Jinan,Shandong,250000,China)

机构地区：[1]山东中医药大学,济南250000 [2]山东中医药大学附属医院小儿骨科,济南250014

出　　处：《中国骨与关节杂志》2023年第10期785-790,共6页Chinese Journal of Bone and Joint

摘　　要：遗传性多发性骨软骨瘤(hereditary multiple exostoses,HME),又叫骨干续连症、遗传性多发性外生骨疣等,是一种以长骨干骺端出现多个良性软骨帽肿瘤为特征的常染色体显性遗传病[1]。目前认为HME主要是由于ETX1和EXT2基因发生突变引起[2]。本病若不及时干预,会导致畸形的进一步加重[3]。受限于当前治疗的手段,本病部分患者需要且仅能进行手术治疗。Hereditary multiple exostoses is an autosomal dominant genetic disease characterized by multiple benign cartilaginous cap tumors in the metaphysis of long bones,mainly caused by mutations in ETX1 and EXT2 genes.The disease can be found in the limbs,spine,ribs and other places,which is often accompanied by pain,asymmetric short stature and a variety of skeletal deformities.At present,the main way to treat HME forearm deformity is surgery.This article reviews the research progress in recent years,aiming to help clinicians understand how to choose the appropriate surgical method.

关 键 词：外生骨疣 多发性遗传性 上肢畸形 先天性 骨软骨瘤 综述 

分 类 号：R687.3[医药卫生—骨科学]