Clinical-radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series.
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SUBMITTER: Segovia-Fuentes JI
PROVIDER: S-EPMC8710844 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Patients with CCD show the classical features of excessive mobility of the shoulder bone, lack of resorption of the deciduous teeth, failure to erupt permanent teeth, multiple impacted and supernumerary teeth, and open fontanelle and sutures of the skull. In this article we report a case of CCD in a 16-year-old male patient, with an aim to highlight the clinical, radiological and recommended treatment guidelines.
| S-EPMC6254376 | biostudies-literature
Project description: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.
| S-EPMC1734317 | biostudies-literature
Project description:We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary teeth, and absence of clavicles. Therefore, the diagnosis was cleidocranial dysplasia, which is a rare autosomal dominant skeletal disease, caused by the mutation in the gene on 6p21 encoding transcription factor CBFA1 (runt-related transcription factor 2-RUNX2). The girl remains under close surveilance, her anterior fontanelle closed spontaneously at the age of 9 years.
| S-EPMC6962259 | biostudies-literature
Project description:BackgroundThis study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clinical examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images.Material and methodsIn the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images.ResultsThe clinical and radiological evaluations determined, hypodontia or oligodontia, breathing problems, sweating problems, a history of fever, sparse hair, saddle nose, skin peeling, hypopigmentation, hyperpigmentation, finger and nail deformities, conical teeth anomalies, abnormal tooth root formation, tooth resorption in the root, gingivitis, history of epilepsy, absent lachrymal canals and vision problems in the cases which included to the study.ConclusionsEctodermal dysplasia cases have a particular place in dentistry and require a professional, multi-disciplinary approach in respect of the chewing function, orthognathic problems, growth, oral and dental health. It has been understood that with data obtained from modern technologies such as three-dimensional dental tomography and the treatments applied, the quality of life of these cases can be improved.
| S-EPMC4464922 | biostudies-literature
Project description:Cleidocranial dysplasia (CCD) is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD.
| S-EPMC6395362 | biostudies-literature
Project description:Cleidocranial dysplasia (CCD) is a congenital anomaly characterized by the presence of impacted supernumerary teeth and delayed eruption of permanent teeth. However, there has been no detailed investigation on supernumerary teeth in patients with CCD using three-dimensional (3D) imaging techniques. The purpose of this study was to elucidate the morphology and position of supernumerary teeth using 3D images reconstructed from cone-beam computed tomography (CBCT) data in a group of five Japanese subjects (male, 3; female, 2; age, 15.0-25.4 years) with CCD. All five subjects exhibited supernumerary teeth (39 in total; average, 7.8; range, 1-15). All supernumerary teeth were impacted and existed as pairs with adjacent permanent teeth. Comparison of the size (the crown and dental-root lengths, the crown mesiodistal and buccolingual diameters), the number of cusps and dental roots, the position, and direction of supernumerary teeth in relation to the adjacent permanent teeth was analyzed. The results of relationship analyses revealed that, at sites other than the molar region, supernumerary teeth were positioned on the lingual and distal sides and supernumerary teeth resembled the morphology of their adjacent permanent teeth in terms of the number of cusps but were smaller than the adjacent permanent teeth. In the molar region, supernumerary teeth were microdontia, which were apparently small and obscure morphologically. In addition, while all adjacent permanent teeth exhibited normal direction, five supernumerary teeth exhibited inverse direction. The findings of this study will improve our understanding of the characteristics of CCD and provide important information for the pathophysiology and clinical treatment.
| S-EPMC7383483 | biostudies-literature
Project description:Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia caused by heterozygosity of mutations in human RUNX2. The disorder is characterized by delayed closure of the fontanel and hypoplastic clavicles that result from defective intramembranous ossification. However, additional features, such as short stature and cone epiphyses, also suggest an underlying defect in endochondral ossification. Here, we report observations of growth-plate abnormalities in a patient with a novel RUNX2 gene mutation, a single C insertion (1228insC), which is predicted to lead to a premature termination codon and thus to haploinsufficiency of RUNX2 and the CCD phenotype. Histological analysis of the rib and long-bone cartilages showed a markedly diminished zone of hypertrophy. Quantitative real-time reverse transcription-polymerase chain reaction analysis of limb cartilage RNA showed a 5-10-fold decrease in the hypertrophic chondrocyte molecular markers VEGF, MMP13, and COL10A1. Together, these data show that humans with CCD have altered endochondral ossification due to altered RUNX2 regulation of hypertrophic chondrocyte-specific genes during chondrocyte maturation.
| S-EPMC1224532 | biostudies-literature
Project description: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.
| S-EPMC3822065 | biostudies-literature
Project description:BackgroundA family case report of cleidocranial dysplasia (CCD) with varied manifestations from father to three siblings is presented. CCD ( MIM # 119600) is a rare autosomal dominant skeletal dysplasia caused by CBAF1 gene ( OMIM 600211) with a wide range of variability. In all the cases generalized dysplasia in bone, prolonged retention of primary teeth and delayed eruption of permanent teeth were evident. Interestingly, there were no supernumerary teeth present. There was mandibular prognathism which was intercepted by occipital chin cup therapy.Aims and objectiveTo present the clinical manifestations, diagnostic imaging and treatment modalities along with dermatoglyphics in CCD patients.ConclusionCleidocranial dysplasia is an uncommon disorder however its clinical and radiological features are characteristic. In addition the CCD patients may be distinguished by specific dermatoglyphic markers. It carries with it several implications in terms of complications like skeletal malocclusion, dental caries, etc. Medical treatment is mainly directed at orthopedic and dental correction. A team approach to the management of dental abnormalities on a long-term basis with the overall goal to provide an esthetic facial appearance and functioning occlusion by late adolescence or early adulthood should be focused.
| S-EPMC4086567 | biostudies-literature
Project description:We report an unusual combination of features comprising delayed tooth eruption and closure of the anterior fontanel as the sole presenting features in a child with cleidocranial dysplasia (CCD). Radiological survey revealed the presence of wormian bones in the skull, pseudoepiphysis at the base of the bilateral second metacarpal, and midline ossification defects at pubic symphysis in the presence of essentially normal clavicles. DNA sequencing of the RUNX2 gene detected a novel nonsense mutation in exon1 (c.166C>T; p.Q56X) in its glutamine-alanine (Q/A) repeat domain. The genotypes of all published cases of CCD with normal clavicles were reviewed. Additional dental and otolaryngological features were enlisted. Three cases with a milder dental phenotype and normal clavicles were associated with a mutation in the Q/A domain. Collectively, we found a novel CCD-causing nonsense mutation p.Q56X in the Q/A domain of the RUNX2 gene.
| S-EPMC4521062 | biostudies-literature