遗传 ›› 1998, Vol. 20 ›› Issue (1): 11-13.
朱荣太; 孙长根; 王爱华; 章龙生 ZHU Rong-Tai;SUN Chang-Gen;WANG Ai-Hua;ZHANG Long-Sheng
摘要: 对成骨不全先证者上溯5代372人进行家系调查,发现该家系共有28例成骨不全,其中已死亡10例(成人、儿童各5例),均非死于本病;现生存18例(成人12例、儿童6例)。该28例均身材矮小、身高显著低于同龄正常者;均有蓝色巩膜;符合常染色体显性遗传缺陷的结缔组织病。现存活18例中,耳聋、听力下降6例;骨折9例(22例次),对照文献中分型标准,本组28例与Ⅰ型、Ⅲ型的部分临床特征相符,是否系介于Ⅰ型、Ⅲ型之间的亚型,有待于进一步研究。
Abstract:A pedigree investigation was carried out on 372 relatives in five generations of a proband of osteogenesis imperfecta.The results showed that there were 28 patients in the family.10 of them died from other causes(5 adults and 5 children respectively).Other 18 cases are alive(12 adults and 6 children respectively).The height of the 28 cases were significantly lower than those of the same age.Furthermore,they all had blue scleras.Their clinical manifestations conformed to those of autosomal dominant hereditary connective tissue disease.Among the living 18 cases,6 suffered from deafness or hearing loss and 0 suffered from fracture(22 person-time altogether).According to the classification criteria in the literature,the clinical manifestations of the 28 cases conformed to those of type I and type III,It is necessary to study further whether they belonged to the subtype between type I and type III.