摘要
目的:报告遗传性多发性外生骨疣(EXT)7个家系共30例患者,探讨其遗传性、并发症、治疗及预后。方法:1978~1997年间收治7例EXT患者,均行单纯骨疣切除术;并以7例患者为先证者进行家系调查及随防。结果:7个家系除家系2外每代均有患者,而且患者的父母至少有一方患病,男女性患者比例为18∶12。7例先证者经手术治疗后随访1~12年,均无复发及恶变。结论:证实EXT为常染色体显性遗传病,本组外显率为97%。EXT常见并发症为疼痛及肢体畸形,对有并发症者行手术切除可获得满意疗效。
Objective:To report 30 affected family members in 7 EXT families and explore the hereditary,complication,treatment and prognosis of EXT.Methods:Retrospectively review 7 probands and 23 of their affected relatives and analyse their pedigrees.All the probands have the operation of simple exostosectomy and their follow_up period varied from 1 year to 12 years.Results:All families have affected member in each generation except No.family.The male to female ratio is 18∶12.All the operated probands have no recurrence and malignancy during follow_up.Conclusion:EXT is an autosomal dominant disorder and the penetrance is 97%in this report.The main complications are pain and limb deformity.Exostosectomy is a satisfactory method of treatment for EXT.
作者
王华
蔡林
徐宏文
顾洁夫
Wang Hua;Cai Lin;Xu Hongwen(Department of Orthopeadics,Second Affiliate Hospital,HubeiMedical university,Wuhan 430071,China)
