背景:锁骨发育不良(CCD)是一种罕见的,常染色体显性遗传骨骼发育不良,患病率为每百万婴儿中的一个。CCD的主要原因是核心结合因子α-1(CBFA1)或runt相关转录因子-2(RUNX2)的突变,位于6p21染色体区域。RUNX2在成骨细胞分化中起重要作用,软骨细胞增殖和分化,和牙齿的形成。该疾病的特征是锁骨发育不全或发育不全,狼骨,颅骨缝合延迟闭合,短头,上颌骨缺乏,保留乳牙,包括恒牙,和多颗多余的牙齿。材料和方法:一名22岁女孩患有颅骨发育不良,身材矮小,窄肩,颅面表现(短脸,宽阔的前额,等。)和牙齿异常(萌出下不同的较低牙齿元素,多余和受影响的多颗牙齿,等。)在我们的服务中进行了检查(巴里Policlinico的齿科口腔医学复杂操作部门)。要求RX直视断层扫描(OPG)和锥形束计算机断层扫描(CBCT)更好地评估多余牙齿的位置及其与其他牙齿的关系并评估骨组织。结果:萌出可能是由牙齿干扰多余的牙齿引起的;因此,在全身麻醉下进行了多余的上犬齿和下前磨牙的提取。手术效果良好,组织愈合良好,未来正畸治疗的可能性得到改善。结论:本文的目的是提供有关放射学的最新信息,临床,和CCD的分子特征,并提醒卫生团队对这些患者进行早期诊断和适当治疗的重要性,以防止患牙并发症并为他们提供更好的生活质量。
Background: Cleidocranial dysplasia (CCD) is a rare, autosomal dominant skeletal dysplasia with a prevalence of one per million births. The main causes of CCD are mutations in the core-binding factor alpha-1 (CBFA1) or runt-related transcription factor-2 (RUNX2), located at the 6p21 chromosomal region. RUNX2 plays important roles in osteoblast differentiation, chondrocyte proliferation and differentiation, and tooth formation. The disease is characterized by clavicular aplasia or hypoplasia, Wormian bones, delayed closure of cranial suture, brachycephalic head, maxillary deficiency, retention of primary teeth, inclusion of permanent teeth, and multiple supernumerary teeth. Materials and Methods: A 22-year-old girl suffering from cleidocranial dysplasia with short stature, narrow shoulders, craniofacial manifestations (short face, broad forehead, etc.) and dental anomalies (different lower dental elements under eruption, supernumerary and impacted multiple teeth, etc.) was examined at our service (Complex Operative Unit of Odontostomatology of Policlinico of Bari). RX Orthopantomography (OPG) and cone beam computed tomography (CBCT) were requested to better assess the position of the supernumerary teeth and their relationships with others and to evaluate the bone tissue. Results: Under eruption was probably caused by dental interferences with supernumerary teeth; hence, extractions of supernumerary upper canines and lower premolars were performed under general anaesthesia. Surgery outcome was excellent with good tissue healing and improvements in the therapeutic possibilities with future orthodontics. Conclusions: The objective of this article is to give an update about radiological, clinical, and molecular features of CCD and to alert the health team about the importance of establishing an early diagnosis and an appropriate treatment in these patients to prevent impacted teeth complications and to offer them a better quality of life.