成骨不全高原藏族一家系三代的临床调查及X线分析  

Clinical Survey on Osteogenesis Imperfecta in Three Generations of a Tibetan Family and Their X-ray Analysis

作　　者：宋建兵[1] 韩莉[1] 唐万峰[1] 庄振燕[1] 张欣荣[1] 李林昌[1] 

机构地区：[1]青海大学附属医院放射科,810001

出　　处：《高原医学杂志》2016年第3期16-19,共4页Journal of High Altitude Medicine

摘　　要：目的:探讨高原藏族成骨不全的遗传方式,临床、X线特点及病因学分析。方法:收集海拔在4 400m高原地区,一藏族患成骨不全家系的临床资料,绘制该家系遗传图谱,分析临床及X线表现。结果:根据临床资料和放射学表现,该家系三代共24人,患成骨不全症6例,女4例、男2例,均表现为蓝色巩膜、体格矮小、骨密度普遍减低、多次骨折、颅骨X线表现为龟背状改变。结论:X线及临床表现对成骨不全的诊断有重要价值,世居高海拔缺氧对成骨不全症的发生的影响有待进一步研究。Objective： To survey the genetic way of osteogenesis imperfecta in three generations of a Tibetan family and analyze their X- ray features. Method： The clinical data of a Tibetan family involved three generations who living at 4 400 meters of plateau and suffering from osteogenesis imperfecta were studied. The family genetic mapping was done and the feature of clinical and X- ray were analyzed. Results： According to the clinical information and radiation features,6 cases（ female 4 and male 2） were diagnosed as osteogenesis imperfecta among 24 family members（ three generations）. They were manifested as blue sclera,physical short,lower bone density,many times of fracture,and X- ray turtle- like change in skull. Conclusion： X- ray and clinical manifestation have important value for diagnosis of osteogenesis imperfecta. As for how the high altitude hypoxia effect on osteogenesis imperfecta is need to further research.

关 键 词：成骨不全 高海拔 X线影 

分 类 号：R681.1[医药卫生—骨科学]