遗传性多发性外生骨疣是常染色体显性遗传性疾病,约60～70%有阳性家族史,突变率为9.1×10~(-6),外显率为0.667,突变位于8q23—24.1部位,现已进行了人类限制性片段长度多态性分析和14种多态性探针连锁遗传分析;最严重的并发症为恶变。 Hereditary multiple exophytic bone herniation is an autosomal dominant hereditary disease, with a positive family history of about 60-70%, a mutation rate of 9.1×10-6, a penetrance of 0.667, and a mutation at 8q23-24.1. Sites have been analyzed for human restriction fragment length polymorphisms and 14 polymorphic probe linkage genetic analyses; the most severe complication is malignant.