颅锁骨发育不全综合征临床、影像表现并文献复习  

Clinical and Imaging Findings of Cleidocranial Dysplasis and Literature Review

作　　者：梁秋梅 韩路军[2] 刘红艳[1] LIANG Qiu-mei;HAN Lu-jun;LIU Hong-yan(Department of Radiology,The Sixth Affiliated Hospital of Guangzhou Medical University(Qingyuan People's Hospital),Qingyuan 511518,Guangdong Province,China;Department of Radiology,Sun Yat-sen University Cancer Center(Key Laboratory of Oncology South China),Guangzhou 510060,Guangdong Province,China)

机构地区：[1]广州医科大学附属第六医院(清远市人民医院)影像科,广东清远511518 [2]中山大学肿瘤防治中心(华南肿瘤学国家重点实验室)影像科,广东广州510060

出　　处：《罕少疾病杂志》2021年第1期55-57,共3页Journal of Rare and Uncommon Diseases

摘　　要：目的探讨及复习颅锁骨发育不全综合征(CCD)的发病机制、临床表现、影像特征及治疗方法,以提高对本病的全面认识及影像诊断。方法回顾性分析我院已确诊的1例CCD典型病例的临床表现及影像动态观察,结合文献对该病的临床及影像表现、治疗方案进行归纳分析。结果本例患者有典型的颅骨、锁骨、牙齿发育不全表现。结论CCD具有典型的临床及影像表现,有助于临床明确诊断,当同时有锁骨、颅骨及牙齿发育异常时,应想到本病的可能。Objective To explore and review the pathogenesis,clinical manifestations,imaging characteristics and treatment of Cleidocranial Dysplasia(CCD)to improve the comprehensive understanding and imaging diagnosis of the disease.Methods retrospective analysis was made on the clinical manifestations and dynamic imaging observation of a typical case of CCD diagnosed in our hospital.Combined with the literature,the clinical manifestations,imaging manifestations,and treatment plan of this disease were summarized and analyzed.Results this patient had typical hypoplasia of the skull,clavicle and teeth.Conclusion CCD has typical clinical and imaging manifestations,which is helpful for clinical diagnosis.When there is an abnormal development of clavicle,skull and teeth,the possibility of this disease should be considered.

关 键 词：颅锁骨发育不全综合征 放射摄影术 体层摄影术 

分 类 号：R681.1[医药卫生—骨科学] R445.3[医药卫生—外科学]