颅锁骨发育不全综合征患者下颌骨喙突异常2例  

Two Cases of Mandibular Coronoid Process Abnormity in Patients with Cranioclavicular Dysplasia Syndrome

作　　者：刘娇艳 王卫红[1] 施延安[1] 钱叶梅 王心怡 LIU Jiaoyan;WANG Weihong;SHI Yanan;QIAN Yemei;WANG Xinyi(Department of Oral and Maxillofacial Surgery,Affiliated Stomatology Hospital of Kunming Medical University,Kunming 650106,China)

机构地区：[1]昆明医科大学附属口腔医院口腔颌面外科,云南昆明650106

出　　处：《口腔医学研究》2023年第3期278-279,共2页Journal of Oral Science Research

基　　金：国家自然科学基金(编号:82160321)云南省卫健委医学领军人才项目(编号:L-201801)云南省省级创新团队项目(编号:202105AE160004)。

摘　　要：颅锁骨发育不全综合征(cleidocranial dysplasia,CCD)是一种罕见遗传病,临床表现常为颅骨、锁骨、牙齿发育不全,较少出现下颌骨喙突异常,本文报道2例CCD患者喙突伸长,且1例患者存在RUNX2基因突变(NM_001024630:exon5:c.586_587del AG),为新突变。Cleidocranial dysplasia(CCD)is a rare genetic disorder.The clinical manifestation usually is cranial,clavicular,and dental hypoplasia,with an unusual coronoid process.We report two patients who had elongate coronoid process and one patient who had a novel mutation in the RUNX2 gene(NM_001024630:exon5:c.586_587del AG).

关 键 词：颅锁骨发育不全综合征 常染色体显性遗传 下颌骨喙突 基因突变 

分 类 号：R782.2[医药卫生—口腔医学]