Department of Dental Science, Dental School, Bologna University.
Eur J Paediatr Dent. 2010 Mar;11(1):39-43.
Cleidocranial dysplasia (CCD) is a rare disorder that is inherited as an autosomal genetic trait. It is characterised by defective ossification, delayed bone and tooth development, stomatognathic and craniofacial abnormalities and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. CCD is a dental disease that needs complex rehabilitation and the assistance of several specialists. In most cases, this disease precipitates towards the end of childhood with the progressive morbidity of the deciduous dentition, thus leading to edentulism at a young age and giving patients an older appearance. Several therapeutic approaches have been proposed within literature. The aim of this paper is to revise the literature on the proposed therapeutic approaches for the functional and aesthetical rehabilitation of the typical defects caused by CCD in the cephalic region, and to identify the most effective therapy currently available.
The most effective therapeutic approach for the early treatment of the orthodontic and orthopaedic diseases in CCD patients would start with an orthopaedic treatment of the upper jaw followed by orthodontic and surgical treatments. When growth is completed a reintervention for maxillofacial surgery and the orthodontic treatment may be required. Finally, if some teeth are missing. function and aesthetics can be achieved replacing them with prosthesis.
颅骨锁骨发育不全（CCD）是一种罕见的疾病，作为常染色体遗传特征遗传。其特征为骨化不全、骨骼和牙齿发育迟缓、口腔颌面部畸形，是由负责成骨细胞分化的 RUNX2 基因突变引起的。CCD 是一种需要复杂康复和多位专家协助的牙科疾病。在大多数情况下，这种疾病在儿童末期加剧，乳牙逐渐出现进行性发病，导致患者年轻时就出现无牙，使患者看起来更老。文献中提出了几种治疗方法。本文的目的是回顾关于 CCD 引起的头颈部典型缺陷的功能和美学康复的治疗方法，并确定目前最有效的治疗方法。
对于 CCD 患者的正畸和骨科疾病的早期治疗，最有效的治疗方法是先对上颌骨进行矫形治疗，然后进行正畸和手术治疗。当生长完成后，可能需要进行颌面外科的再次干预和正畸治疗。最后，如果缺失了一些牙齿，可以通过修复体来恢复功能和美观。
