• Maxillofacial Plastic and Reconstructive Surgery
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• v.37
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• pp.41.1-41.6
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• 2015

Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical and radiographic manifestations at the age of 11 and 29 of a CCD patient, investigates the mutation of core-binding factor A1 (CBFA1) based on gene analysis, and illustrates successful oral reconstruction with fixed prosthesis and dental implant after the extraction of multiple teeth.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.3 no.2
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• pp.91-96
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• 2007

Cleidocranial dysplasia(CCD) is a congenital genetic disorder of skeletal and dental abnormality, which is mesodermal dysfunction influencing many tissues and organs, CCD was reported by Morand at first in 1766, And later, it was named cleidocranial dysostosis, cleidocranial dysplasia, Marie-sainton syndrome and mutational dysostosis. It is autosomal dominant disorder and there is no prevalence between man and woman. Until recent days, mutation of Runx2 in chromosome6p21 has known to be a main factor causing CCD. The specific clinical features of CCD are aplasia or hypoplasia of one or both clavicles and incomplete closing of fontanels and cranial sutures. Dental manifestations include retention of deciduous teeth, delayed eruption of permanent teeth, supernumerary teeth and cyst. Because there is no mental retardation and physical disability in CCD patients, they usually can not recognize their dental abnormality by the time of abolescence. So, after exfoliation of deciduous teeth, they usually live with edentulous status. It usually drives CCD patients to suffer from esthetic and functional problem. For this reason, CCD patients must be early diagnosed and improved in their appearance as well as masticatory function. So, surgical removal of supernumerary teeth and orthodontic eruption of the natural permanent teeth at adequate time is necessary.

• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.1
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• pp.144-151
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• 1998

Cleidocranial dysplasia (CCD), which is accepted as an autosomal disorder, is a generalized disorder of bone with severe dental abnormalities. Among the most characteristic anomalies seen are hypoplasia of clavicles or aplasia of clavicles, permanant non-ossification of cranial sutures & fontanels, delayed eruption of the permanant dentition & the presence of unerupted supernumerary teeth. CCD may first be noted by dentist because of many dental problems, so we should diagnose the disorder earlier & understand the development of dentition in CCD to ensure timely intervention with proper periodic dental X-ray.

• 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.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.1
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• pp.180-184
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• 2001

Cleidocranial Dysplasia(CCD) is an autosomal dominant human bone disease characterized by abnormal clavicles, patent sutures and fontanelles, and dental anomalies. Among dental anomalies, it is characterized that permanent dentition is severly disturbed due to multiple supernumerary teeth and abnormalities of tooth morphology. A eight-year-old female patient diagnosed as cleidocranial dysplasia visited in our hospital. Upon clinical oral exam, retained deciduous teeth, constriction of dental arch, anterior cross bite, and multiple dental caries were observed. In the dental panoramic radiograph, retained deciduous teeth and multiple supernumerary teeth in the maxilla and the mandible were found. In the cephalometric radiograph, open sutures and wormian bones were seen. In the chest P-A view absence of clavicles was observed. The cleidocranial dysplasia patients have eruption problems in permanent dentition both in regions with and without supernumerary teeth. The severely delayed or arrested eruption of permanent teeth has been ascribed to various factors : 1) The presence of multiple supernumerary teeth, 2) malformed roots with lack of cellular cementum, 3) the jaw bone being too dense, and 4) abnormal resorption of bone and primary teeth. Formation and maturation of primary teeth in cleidocranial dysplasia are normal, whereas the permanent dentition has various anomalies. Therefore, dentists should understand the development of dentition in cleidocranial dysplasia, and treat them in proper time.

• 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.

• 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.

• 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.

• 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.