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

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          Abstract

          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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          Most cited references102

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          Cleidocranial dysplasia: clinical and molecular genetics.

          S Mundlos (1999)
          Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors. Mutations in the CBFA1 gene that presumably lead to synthesis of an inactive gene product were identified in patients with CCD. The function of CBFA1 during skeletal development was further elucidated by the generation of mutated mice in which the Cbfa1 gene locus was targeted. Loss of one Cbfa1 allele (+/-) leads to a phenotype very similar to human CCD, featuring hypoplasia of the clavicles and patent fontanelles. Loss of both alleles (-/-) leads to a complete absence of bone owing to a lack of osteoblast differentiation. These studies show that haploinsufficiency of CBFA1 causes the CCD phenotype. CBFA1 controls differentiation of precursor cells into osteoblasts and is thus essential for membranous as well as endochondral bone formation.
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            Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

            Florian Otto, Stefan Mundlos, Hirokazu Kanegane (2002)
            Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, and short stature. The locus for this disease was mapped to chromosome 6p21. RUNX2 is a member of the runt family of transcription factors and its expression is restricted to developing osteoblasts and a subset of chondrocytes. Mutations in the RUNX2 gene have been shown to cause CCD. Chromosomal translocations, deletions, insertions, nonsense and splice-site mutations, as well as missense mutations of the RUNX2 gene have been described in CCD patients. Although there is a wide spectrum in phenotypic variability ranging from primary dental anomalies to all CCD features plus osteoporosis, no clear phenotype-genotype correlation has been established. However analysis of the three-dimensional structure of the DNA binding runt domain of the RUNX proteins and its interaction with DNA, as well as the cofactor CBFB, start to provide an insight into how missense mutations affect RUNX2 function. Copyright 2002 Wiley-Liss, Inc.
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              A natural history of cleidocranial dysplasia.

              Edward C. Cooper, B. Lee, Ivan Johnston … (2001)
              Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with clavicle hypoplasia and dental abnormalities. The condition is caused by mutations in the CBFA1 gene, a transcription factor that activates osteoblast differentiation. Clinical characteristics associated with CCD have previously been described in case reports and small case series. This study was undertaken to gain a more complete delineation of clinical complications associated with CCD. The study population was composed of 90 CCD individuals and 56 relative controls ascertained from genetic and dental practices in the United States, Canada, Europe, and Australia. A number of previously unrecognized complications were significantly increased including: genua valga, scoliosis, pes planus, sinus infections, upper respiratory complications, recurrent otitis media, and hearing loss. Primary Cesarean section rate was significantly increased compared to relative controls and the general population rate. Finally, dental abnormalities, including supernumerary teeth, failure of exfoliation of the primary dentition, and malocclusion, are serious and complex problems that require intervention. Clinical recommendations based on the results of this study are included. Copyright 2001 Wiley-Liss, Inc.
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                Author and article information

                Contributors
                G. Galluccio:
                ORCID: http://orcid.org/0000-0002-6876-8839
                Journal
                Journal ID (nlm-ta): Int J Dent
                Journal ID (iso-abbrev): Int J Dent
                Journal ID (publisher-id): IJD
                Title: International Journal of Dentistry
                Publisher: Hindawi
                ISSN (Print): 1687-8728
                ISSN (Electronic): 1687-8736
                Publication date Collection: 2018
                Publication date (Electronic): 4 July 2018
                Volume: 2018
                Electronic Location Identifier: 6591414
                Affiliations
                1Department of Oral and Maxillofacial Sciences, Sapienza University of Rome, Rome, Italy
                2Private Practice, Rome, Italy
                3Private Practice, Montreux, Switzerland
                Author notes

                Academic Editor: Carla Evans

                Author information
                http://orcid.org/0000-0002-0660-4062
                http://orcid.org/0000-0003-2439-2187
                http://orcid.org/0000-0002-6876-8839
                Article
                DOI: 10.1155/2018/6591414
                PMC ID: 6079435
                PubMed ID: 30123273
                SO-VID: fe64ed25-7341-4572-ba42-b435b51eb39a
                Copyright © Copyright © 2018 A. Impellizzeri et al.
                License:

                This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 12 February 2018
                Date accepted : 20 May 2018
                Categories
                Subject: Review Article

                ScienceOpen disciplines: Dentistry
                Data availability:
                ScienceOpen disciplines: Dentistry

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