肱骨短小症患者临床体征与骨骼X线改变特征分析  

The analysis of clinical signs and X- ray feature in patients with humeral shortness

作　　者：李群伟[1] 龚弘强 侯海峰[1] 李宝华[1] 焦凤萍[1] 

机构地区：[1]泰山医学院流行病学研究所,山东271016 [2]西藏自治区地方病防治研究所

出　　处：《中国地方病防治》2015年第1期4-6,共3页Chinese Journal of Control of Endemic Diseases

基　　金：国家自然科学基金(81060228;81273155);山东省自然科学基金(ZR2012HL47)

摘　　要：目的分析肱骨短小症患者的体征和X线征;方法依据临床检查和X光拍片,分析确认该病的临床体征和X线病变特征;结果该病的突出特征是肱骨短小,上臂与前臂长度不成比例,两者比值在0.45-0.65之间,远小于两个对照组(F=352.34,P<0.001);多数患者身材矮小,个别患者身高基本正常;患者肘弯明显;走路姿势呈蹒跚步态;体格发育较差;心血管系统正常,智力发育正常;该病患无论临床检查还是X线检查,其手指骨没有病变或极其轻微,这是与大骨节病的主要区别;患者X线改变明显,主要集中在肱骨上,主要表现为骨端粗大变形,骨发育不良,长管状骨的骨端呈现为"干骺连续征",这具有鉴别诊断的意义;结论本病属于骨软骨发育不良类疾病,与目前已知的骨病有明显不同,目前,课题组正在做遗传基因分析,或为一新发现的特殊骨病,但尚需排除是大骨节病的一个特殊类型。Objective Analyze clinical signs and X- ray feature in patients with humeral shortness. Methods Based on clinical exam and X- ray screening,analyze and confirm the clinical and X- ray features of humeral shortness. Results The outstanding features of the disease are short humerus, the length of upper arm and forearm are disproportionate, their ratio is between 0. 45 and 0. 65, which is much smaller than the ratio in the two control groups. Most patients with short stature, only a few patients with normal height. All patients with elbow bent significantly, walks in a staggering gait. Poor physical development, cardiovascular system and mental development are normal. The main difference with Kaschin- Beck disease（ KBD） is that its finger bone have no pathological changes or very slight by both clinical and X- ray examination. X- ray changes in patients focus on the humerus primarily, characterized by thick and deformed bone, bone dysplasias, extremities of long bone are rendered as metaphyseal aclasia, which has significance of differential diagnosis. Conclusion This disease belongs to the cartilage dysplasia disease, which is significantly different with the bone diseases which have known. Now, Research Group is doing genetic analysis,it may be a new kind of special bone disease, but has to rule out a special type of KBD.

关 键 词：骨软骨病 骨发育不良 肱骨短小 X线特征 鉴别诊断 

分 类 号：R681.7[医药卫生—骨科学]