指骨关节黏连症的X线表现(附2家系25例报告)

The x-ray symptoms of the finger-joint adhesion (Attached with 25 cases reports from 2 families)

目的 分析指骨关节黏连症的临床、遗传及X线表现。方法 对指骨关节黏连症两家系进行调查、随访 ;并进行外周血培养和染色体G显带分析 ;同时做血清钙、磷生化检查。对家系Ⅱ的先证者Ⅴ2 摄双手、双足正侧位X线片。结果 共发现 2 5例患者 ,其中男 11例 ,女 14例 ,且两家系患者的症状属同种类型 ,均有中节指骨有变短 ,近节指骨反而变长 ,近端指、指关节融合 ,但手指长度与正常人无显著差别 ,属常染色体显性遗传 ,具有可变的外显率和不同的表现度。结论 X线平片与临床及遗传学结合 ,有助于指骨关节黏连症的诊断。

Objective To analyze the clinical,genetic and x-ray symptoms of the patients with the finger-joint adhesion from two families.Methods To investigate and follow up the patients with the disease from two families,and then analyze its symptoms through the culture of blood and the G-dominance band of the chromosomes.Meanwhile,the calcium in the serum and the phosphate in the blood of the patients are under bio-chemical examination.Besides,the first patient in the two families diagnosed with the disease has his hands and feet x-rayed from the front and the sides.Results Altogether,25 patients in the two families have been found with finger-joint adhesion,of whom,11 are male,14 are female.The symptoms of the patients turn out to be of the same type.The middle part of the finger bones of all the patients becomes shorter,the part near the palm abnormally turns longer,and the parts near the end point blend together.Except for these symptoms,there is no obvious difference between the length of the fingers of the patients and those of the normal people.All these abnormal symptoms of the patients belong to the dominant genetic problems of common chromosome,which has a variable dominance rate and different symptoms.Conclusions The combine of the x-rays plane with clinical genetics helps the diagnosis of the symptoms of the finger-joint adhesion.