颅锁骨发育不全综合征患者下颌骨喙突异常2例

doi:10.13701/j.cnki.kqyxyj.2023.03.017

口腔医学研究 ›› 2023, Vol. 39 ›› Issue (3): 278-279.DOI: 10.13701/j.cnki.kqyxyj.2023.03.017

颅锁骨发育不全综合征患者下颌骨喙突异常2例

刘娇艳, 王卫红^*, 施延安, 钱叶梅, 王心怡

昆明医科大学附属口腔医院口腔颌面外科云南昆明 650106

收稿日期:2022-07-04 出版日期:2023-03-28 发布日期:2023-03-21
通讯作者: * 王卫红, E-mail: wangweihong@kmmu.edu.cn
作者简介:刘娇艳(1997~ ),女,云南腾冲人,硕士在读,研究方向:成釉细胞瘤和罕见病等。
基金资助:
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)

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

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

Received:2022-07-04 Online:2023-03-28 Published:2023-03-21

摘要/Abstract

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。

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

Abstract: 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).

Key words: cleidocranial dysplasia, autosomal dominant inheritance, mandibular coronoid process, gene mutation

刘娇艳, 王卫红, 施延安, 钱叶梅, 王心怡. 颅锁骨发育不全综合征患者下颌骨喙突异常2例[J]. 口腔医学研究, 2023, 39(3): 278-279.

LIU Jiaoyan, WANG Weihong, SHI Yanan, QIAN Yemei, WANG Xinyi. Two Cases of Mandibular Coronoid Process Abnormity in Patients with Cranioclavicular Dysplasia Syndrome[J]. Journal of Oral Science Research, 2023, 39(3): 278-279.

参考文献

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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

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