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

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).