成骨不全(附25例分析)

Osteogenesis Imperfecta (Analysis of 25 Cases)

本文对作者收集的25倒成骨不全进行综合分析。其中18例无家族史，说明本病是基因突变所致。由于成骨细胞形成Ⅰ型原改原发生障碍，引起以脆骨为主的全身间质和结缔组织异常，包括心血管病变。可见无骨折的长骨弯曲，髋臼股骨头内陷呈漏斗或元宝状骨盆、鱼椎样椎骨、肋串珠、鸡胸，说明本病同时有骨质软化，骨折后能愈，骨端膨大，并有骨瘤样骨痂和软骨痂形成的假性假关节，证明软骨成骨不受影响。1例同一病人不同部位分别表现为粗骨和细骨，同一部位可并有粗骨和囊样变，而且同一部位可先为细骨后转化为粗骨。骨骺内钙化点、花生指样改变是特殊X线表现。文献记载的骨间膜骨化，实际上是不全骨折后引起的骨痂。CT检查2例，显示椎骨CT值减低，髂骨、髋臼、股骨颈皮质缺损，这在普通X线检查时不能被发现。

In this paper, 25 Cases of patients with osteogenesis imperfecta were analysed. 18 Cases of them did not have history of the same disease in family. This proved that genic mutation was the cause of this disease. There was disease of collagen fiber and mesenchymal and connective tissue in whole body,including cardiovascular change. At the same time they presented radiolgical manifestation of osteomalacia. Union of fracture, expand of bone end, osteoma-like calus and faise pseudarthrosis made from cartilage calus all proved that endochondral ossificaion was normal. In one case, the identical patient in different position presented slender diapysis or thick diaphysis respectively and in the identical pesition at the same time, presented thick and cyst -like diaphysis, and in the identical position slender diaphysis was changed into thick diaphysis. Calcification punctumin epiphysis and peanut's shell -like phalanx were particular radiologicalmanifestation. Interisseous membranous ossification recorded in document practically was calus due to uncompled fracture. The lumbar vertebra had lower attenuation value on the CT images of 2 patients.The bone cortex of ilium, acetabulum and neck of femur showed defect and can not be showed by routine X-ray examination.