• Imaging Science in Dentistry
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• v.49 no.4
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• pp.307-315
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• 2019

This report describes 3 cases of cleidocranial dysplasia (CCD) and presents relevant findings on long-term follow-up radiographic images of impacted permanent teeth with delayed eruption. Radiographic images of 3 CCD patients were reviewed retrospectively. These images were mainly composed of panoramic and skull radiographs, and the follow-up periods were 3, 13, and 13 years, respectively. The distinct features revealed by the images were described, and the eruption state of impacted permanent teeth was evaluated. The features common to the 3 cases were multiple supernumerary teeth, the presence of Wormian bone, underdevelopment of the maxilla and the maxillary sinus, and clavicular hypoplasia. The eruption of impacted permanent teeth was not observed without proper dental treatment in adult CCD cases, even after long time periods had elapsed. When proper orthodontic force was applied, tooth movement was observed in a manner not significantly different from the general population.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.31 no.5
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• pp.440-443
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• 2009

Cleidocranial dysplasia(CCD) is a rare syndrome usually caused by an autosomal dominant gene or no apparent genetic cause. The skull is large and short with marked bossing of the frontal bone. Closure on the fontanelles and sutures is delayed. The clavicle may be unilaterally or bilaterally aplastic. Oral manifestations include multiple impacted permanent teeth, prolonged retention of primary teeth and multiple supernumerary teeth. There are many difficulties in the early diagnosis of CCD because a majority of the craniofacial abnormalities becomes obvious only during adolescence. Late diagnosis produce occlusional & psychological problem. Therefore early detection and treatment of CCD can reduce the period and the extent of orthodontic and surgical interventions. We experienced CCD patient with multiple supernumerary teeth and will report it with the literature review.

• The Journal of the Korean dental association
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• v.13 no.12
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• pp.1149-1156
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• 1975

• Imaging Science in Dentistry
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• v.45 no.3
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• pp.187-192
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• 2015

Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

• Imaging Science in Dentistry
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• v.51 no.3
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• pp.271-278
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• 2021

Purpose: This study aimed to investigate the panoramic imaging features of cleidocranial dysplasia (CCD) with a relatively large sample. Materials and Methods: The panoramic radiographs of 40 CCD patients who visited Seoul National University Dental Hospital between 2004 and 2018 were analyzed. Imaging features were recorded based on the consensus of 2 radiologists according to the following criteria: the number of supernumerary teeth and impacted teeth; the shape of the ascending ramus, condyle, coronoid process, sigmoid notch, antegonial notch, and hard palate; the mandibular midline suture; and the gonial angle. Results: The mean number of supernumerary teeth and impacted teeth were 6.1 and 8.3, respectively, and the supernumerary teeth and impacted teeth were concentrated in the anterior and premolar regions. Ramus parallelism was dominant (32 patients, 80.0%) and 5 patients (12.5%) showed a mandibular midline suture. The majority of mandibular condyles showed a rounded shape (61.2%), and most coronoid processes were triangular (43.8%) or round (37.5%). The mean gonial angle measured on panoramic radiographs was 122.6°. Conclusion: Panoramic radiographs were valuable for identifying the features of CCD and confirming the diagnosis. The presence of numerous supernumerary teeth and impacted teeth, especially in the anterior and premolar regions, and the characteristic shapes of the ramus, condyle, and coronoid process on panoramic radiographs may help to diagnose CCD.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.3
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• pp.456-463
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• 2009

Cleidocranial dysplasia(CCD) is a congenital disorder of skeletal and dental abnormality, which is a mesodermal dysfunction influencing many tisssues and organs. Skeletal abnormalities in CCD are delayed closure of cranial suture and fontanelle, presence of wormian bone and clavicle aplasia. CCD also has an effect on long bones, phalanges, spine, pelvis, muscles, and central nervous system. Dental manifestations include retention of deciduous teeth, multiple supernumerary teeth, delayed eruption or impaction of permanent teeth and formation of cysts around nonerupted teeth. However, due to lack of any substansive medical or physical disability, diagnosis is often late, thereby causing masticatory and psychological problems caused by delayed eruption of permanent teeth after exfoliation of deciduous teeth. For this reason, CCD requires early diagnosis, and the patient's appearance must be improved. Also, provision for a functional masticatiory mechanism by treatment of surgical removal of supernumerary teeth followed by orthodontic eruption of the natural permanent teeth at an adequate time is necessary.

• Journal of the korean academy of Pediatric Dentistry
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• v.46 no.4
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• pp.409-415
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• 2019

Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription factor 2 (RUNX2), a master regulator of bone formation, have been identified in CCD patients. The aim of this study was to identify the molecular genetic causes in a CCD family with delayed tooth eruption. The 23-year-old female proband and her mother underwent clinical and radiographic examinations, and all coding exons of the RUNX2 were sequenced. Mutational analysis revealed a single nucleotide deletion mutation (NM_001024630.4 : c.357delC) in exon 3 in the proband and her mother. The single C deletion would result in a frameshift in translation and introduce a premature stop codon [p.(Asn120Thrfs^*24)]. This would result in the impaired function of RUNX2 protein, which may be the cause of delayed eruption of permanent teeth in the family.

• The korean journal of orthodontics
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• v.43 no.5
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• pp.248-260
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• 2013

Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, is mainly caused by mutations in Runx2, a gene required for osteoblastic differentiation. It is generally characterized by hypoplastic clavicles, narrow thorax, and delayed or absent fontanel closure. Importantly, its orofacial manifestations, including midfacial hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth, severely impede the well-being of affected individuals. Successful treatment of the orofacial problems requires the combined efforts of dental specialists. However, only a few successfully treated cases have been reported because of the rarity of CCD and complexity of the treatment. This article presents the University of California, San Francisco (UCSF) treatment protocol for the dentofacial manifestations of CCD based on two treated and 17 diagnosed cases. The records of two patients with CCD who had been treated at the UCSF School of Dentistry and the treatment options reported in the literature were reviewed. The UCSF treatment protocol produced a successful case and a partially successful one (inadequate oral hygiene in the retention stage resulted in decay and loss of teeth). It provides general guidelines for successfully treating the orofacial manifestations of CCD.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.2
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• pp.82-87
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• 2008

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia and is caused by mutation in the CBAFA1 gene of 6p21 chromosome band. Patients with CCD express skeletal dysplasia such as hypoplastic/aplastic clavicle, brachycephalic skull, midface hypoplasia and moderate short stature. In addition to skeletal dysplasia, specific symptoms may appear in respiratory organs, auditory area, and the more distinguished, dentition. Dental findings include: delayed eruption of permanent tooth, multiple supernumerary tooth more than five, malocclusion, etc. In Patients presenting excessive SNT, complications of SNT could be prevented and will be managed through pertinently timed treatment such as tooth extraction, using space maintainer, and orthodontic management after early diagnosis. This case is about the treatment of eruption disorders in permanent teeth owing to SNT in CCD patients, who are three family members in the $3^{rd}$ generation inherited from maternal grandfather through atavism. We performed the extraction of numerous SNT and orthodontic treatment on them in this case. On evaluating panoramic and cephalometric views, some classical signs of skeletal dysplasia due to CCD were recognized in a pool of three patients, the clavicle was distinctively displayed in all patients.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.3
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• pp.372-380
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• 2004

Cleidocranial dysplasia(CCD) is a congenital disorder of skeletal and dental abnormality, which is mesodermal dysfunction influencing many tissues and organs. Skeletal abnormalities in CCD are delayed closure of cranial suture and fontanelle, presence of wormian bone and clavicle aplasia. And CCD has an effect on the long bones, phalanges, spine, pelvis, muscles, and central nervous system. Dental manifestations include retention of deciduous teeth, multiple supernumerary teeth, delayed or absent eruption of permanent teeth and formation of cysts around nonerupted teeth. But as a result in common with a lack of medical and physical disability patient may have no substantive complaint, there are many masticatory and psychological problem by absent eruption of permanent teeth after exfoliation of deciduous teeth. For this reason CCD is necessary fo early diagnosis and must be improvement of the patient's appearance as well as provision of a functioning masticatory mechanism by treatment of surgical removal of supernumerary teeth, followed orthodontically eruption of the natural permanent teeth at adequate time.