Introduction Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals, with complete penetrance and widely variable expressivity. Aim To identify the incidence of these clinical findings in the report of the literature by means of PubMed interface from 2002 to 2015, with the related keywords. The report of local patients presents a clinical example, related to the therapeutic approach. Results and Discussions The PubMed research resulted in 122 articles. All the typical signs were reported in all presented cases. The maxilla was hypoplastic in 94% of the patients. Missing of permanent teeth was found in two cases: one case presented a class II jaw relationship, instead of class III malocclusion. Similar findings were present in our cohort. Conclusion CCD is challenging for both the dental team and the patient. The treatment requires a multidisciplinary approach. Further studies are required to better understand the cause of this disease. According to this review, a multistep approach enhances the possibilities to achieve the recovery of the most possible number of teeth, as such to obtain a good occlusion and a better aesthetic.
The aim of this study was to validate a new aesthetic analysis and establish the sagittal position of the maxilla on an ideal group of reference. We want to demonstrate the usefulness of these findings in the treatment planning of patients undergoing orthognathic surgery. We took a reference group of 81 Italian women participating in a national beauty contest in 2011 on which we performed Arnett's soft tissues cephalometric analysis and our new “Vertical Planning Line” analysis. We used the ideal values to elaborate the surgical treatment planning of a second group of 60 consecutive female patients affected by skeletal class III malocclusion. Finally we compared both pre- and postoperative pictures with the reference values of the ideal group. The ideal group of reference does not perfectly fit in Arnett's proposed norms. From the descriptive statistical comparison of the patients' values before and after orthognathic surgery with the reference values we observed how all parameters considered got closer to the ideal population. We consider our “Vertical Planning Line” a useful help for orthodontist and surgeon in the treatment planning of patients with skeletal malocclusions, in combination with the clinical facial examination and the classical cephalometric analysis of bone structures.
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