颅锁骨发育不全综合征临床回顾性分析

Clinical analysis of cleidocranial dysplasia

【目的】研究分析颅锁骨发育不全综合征(cleidocranial dysplasia,CCD)的临床特点及鉴别诊断要点,为早期诊断和治疗提供依据。【方法】通过中国期刊全文数据库、维普数据库、万方数据库、PubMed检索发表的相关文献报道,对资料完整的病例进行回顾性调查分析。【结果】从筛选后得到的134例CCD病例中在种族、性别、地域上无明显差异。前囟闭合不全或延迟闭合(占75.4%),锁骨发育不全(占73.1%),双肩下垂,可不同程度向中线并拢(占71.0%),牙齿异常(50%)是CCD最常见的三大特征。【结论】由于CCD的特征与年龄有很大相关性,对于新生儿和婴幼儿的明确诊断需详细与其它疾病相鉴别,早期诊断对后续的治疗及远期疗效的作用不可忽视。

【Objective】To comperhend the clinical characteristics of cleidocranial dysplasia and differential diagnosis.【Methods】The relevant literature was reviewed from CNKI,weipu,wanfang,and PubMed and analyzed the well-documented reported.【Results】CCD is a generalized skeletal dysplasia affecting not only the skull and clavicles but the entire skeleton.From 134 cases of CCD which were selected,there were no significant difference between CCD patients in race,sex and regions.Open fontanelles（75.4%）,underdevelopment of clavicles（73.1%） and abnormal teeth（50.0%） are the three significant characteristics.【Conclusion】 Due to CCD has significant correlation with ages,differential diagnosis is important to early diagnosis,especially for newborns and infants.