A familial case of cleidocranial dysostosis presenting upper limb ischemia

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.

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A familial case of cleidocranial dysostosis presenting upper limb ischemia

Abstract: A case of a woman with cleidocranial dysostosis resulting in upper right limb ischemia is presented. This uncommon condition is an exceedingly rare cause of vascular compression that gives rise to thrombosis of the axillary-subclavian arteries. Only two cases have previously been reported.

Cited by 3 publications

References 5 publications

General Skeletal Disorders

General Skeletal Disorders

General Skeletal Disorders

Delayed Eruption of Permanent Dentition and Maxillary Contraction in Patients with Cleidocranial Dysplasia: Review and Report of a Family

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