摘要
目的:分析1例锁骨颅骨发育不全综合征的典型病例。为临床正确诊断该类遗传性疾病提供临床依据。方法:对1例锁骨颅骨发育不全综合征患者进行临床检查、染色体检查、并对其家族成员进行家系调查。结果:临床确诊锁骨颅骨发育不全综合征,主要临床表现为异常发育的锁骨, 囟门的闭合不全, 多生牙, 身材矮小等一系列骨骼的改变。家系调查被诉怀疑有相关病患发生,染色体检查未见异常。结论:锁骨颅骨发育不全综合征是一种由于常染色体变异所造成的骨骼发育异常。及时正确地诊断该疾病,对于病患的进一步的正畸及修复治疗非常重要。
Objective: To investigate a case of cleidocranial dysplasia (CCD) to supply useful information for diagnosisCCD in clinic. Method: Clinical investigation, Chromosome test were done to analysis a case of CCD. Result: A case withsupernumerary teeth had been proved to be a case of CCD with abnormal clavicles, patent sutures and fontanelles,supernumerary teeth, short stature, and a variety of other skeletal changes. Conclusions: Cleidocranial dysplasia (CCD) isan skeletal dysplasia and to diagnosis the disease can help dentists to cure the patient in time.
出处
《口腔颌面修复学杂志》
2003年第4期261-263,共3页
Chinese Journal of Prosthodontics
