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近年来国内外文献报道家族性遗传性成骨不全,大多发病于散在性小家族。1983年作者在马里发现一个少见的大家族(图1),本组共调查了六代187人。致病基因在该家族中连续传了五代:发病者124人(男66人女58人),发病率为66.31%。平均发病年龄8岁。187
In recent years, domestic and foreign literature reported familial hereditary osteogenesis imperfecta, mostly in scattered small families. In 1983, the author found a rare large family in Mali (Figure 1). A total of 187 people in six generations were investigated. Pathogenic genes in the family for five consecutive generations: the incidence of 124 people (66 males and 58 females), the incidence was 66.31%. The average age of onset is 8 years old. 187