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遗传性多发性外生骨疣——附7个家系30例报告 被引量:1

Hereditary Multiple Exosotoses (A Report of 30 Patients in 7 Families)
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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 。 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.
出处 《湖北医科大学学报》 2000年第1期58-60,共3页
关键词 多发性外生骨疣 外科手术 遗传性 EXT exostoses,multipl/SU hereditary diseases
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  • 1张喜凤,许玉刚,陈文欣.遗传性多发性外生骨疣一家系3代5例报告[J].中国当代儿科杂志,2007,9(3):258-259. 被引量:2
  • 2蒋波,黄强,李正军.遗传性多发性骨软骨瘤1家3代4例报告[J].实用骨科杂志,2007,13(8):486-486. 被引量:1
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  • 6Faiyaz-UI-Haque M,Ahmad W,Zaidi SH,et al. Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis ), Clin Genet,2004,66:144-151.

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