Cleidocranial Dysplasia

Cleidocranial dysplasia (CCD) is a developmental anomaly of the skeleton and teeth which may be inherited, be transmitted as dominant characteristics in either male or female or even appear spontaneously. A case was reported in the department of oral medicine and radiology of two sisters age 17 and 19 years old with a chief complaint of milk teeth not falling since childhood. They presented specific physical and oral findings in common which suggested the idea of an undiagnosed syndrome. The sisters showed CCD characteristics including short stature (4 feet) and frontal bone resorption indicating delayed closure of fontanels...

Supernumerary teeth are presented in any region of the dental arches as additional teeth to the standard set of teeth and may present in either the primary or secondary dentition. They can be found as single or multiple teeth on one or both sides of the dental arches, with a preference for the premaxilla. The supernumerary teeth might cause aesthetic and/or functional problems, mainly if situated in the maxillary anterior region. Multiple supernumerary teeth are often related to specific conditions or in syndromic patients, i...

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis; short middle phalanx of the fifth fingers; and vertebral, craniofacial, and dental anomalies. It is a rare disease, with a prevalence of 1-9/1,000,000, high penetrance, and variable expression. The gene responsible for CCD is the Runt-related transcription factor 2 ( RUNX2 ) gene...

The presence of double mesiodens or mesiodentes, i.e., two supernumerary teeth in the maxillary midline, presents unique challenges in mixed dentition. Common clinical manifestations include delayed eruption, midline diastema, and occlusal disturbances, leading to complications such as root resorption, pathological migration of tooth, crowding, cyst formation, and malocclusion. Mesiodens can be associated with several syndromes, like cleidocranial dysplasia, familial adenomatous polyposis, trichorhinophalangeal syndrome, type I, Rubinstein-Taybi syndrome, and Nance-Horan syndrome, among others...

Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting primarily the cranium, clavicle, and dental tissues. The expression of this disorder can vary widely in severity, even within the same family. Here we present a case report of an affected mother and son with classical manifestations of the disease.

KEY CLINICAL MESSAGE: Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene. ABSTRACT: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes...

Cleidocranial dysplasia (CCD) is a rare genetic condition that affects the bones and teeth. In our study, we presented three cases of CCD, including one with a new mutation and two with a family history. Case 1 had a unique heterozygous frameshift mutation (NM_001015051,c.762del, p.(Ser256Valfs*2)), while Case 2 and her brother (Case 3) had a common pathogenic missense mutation (NM_001015051,c.674G, p.Arg225Gln), which was also found in their father. The mutation in Case 1 was not reported before. Interestingly, the symptoms in Case 1, with the new mutation, were less severe than the other cases and the previous reports...

Supernumerary molars are an uncommon anomaly that can occur in the maxillofacial complex, referring to the presence of additional teeth in the dental arch. This condition is often associated with several rare disorders such as Gardner's syndrome, Cleidocranial dysplasia, Ehler-Danlos syndrome, and Down syndrome However, it is seldom observed in non-syndromic associations. They occur more frequently in the maxilla than in the mandible. This research represents a unique case study that explores unerupted paramolar and parapremolar follicles coexisting in both the maxillary and mandibular arches of a 17-year-old male patient...

Skeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding which syndromes share this clinical phenotype. The aims of this study were to: (i) identify the syndromes affected by the SCIII phenotype; (ii) clarify the involvement of maxillary and/or mandibular structures; (iii) explore shared genetic/molecular mechanisms. A two-step strategy was designed: [Step#1] OMIM, MHDD, HPO, GeneReviews and MedGen databases were explored; [Step#2]: Syndromic conditions indexed in [Step#1] were explored in Medline, Pubmed, Scopus, Cochrane Library, WOS and OpenGrey...

Cleidocranial dysplasia (CCD) is a rare genetic disorder that causes cranial and skeletal abnormalities. This case report presents a comprehensive analysis of a rare instance of CCD, highlighting its clinical manifestations through an orthodontic lens shedding light on the challenges and complexities associated with managing this uncommon condition. The patient, an 18-year-old female, presented with a variety of symptoms, including delayed eruption of permanent teeth, abnormal facial features, and prominent cranial abnormalities...

Cleidocranial dysplasia (CCD) is a rare genetic defect caused by a heterozygous mutation of runt-related transcription factor 2 (RUNX2), which is important for osteoblast and skeletal development. RUNX2-deficiency causes extra- and intra-oral malformations that often require orthodontic treatment. Nicotinamide (NAM) affects bone remodelling processes. As these are crucial for orthodontic therapy, NAM could improve orthodontic treatment in CCD patients. This study investigates the effect of NAM in control and RUNX2-deficient osteoblasts under mechanical strain mimicking orthodontic treatment...

Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysostosis. It usually follows an autosomal dominant mode of transmission with no predilection of genre or ethnic group. It is caused by a mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent teeth, with multiple impacted supernumeraries, and the absence of cellular cementum...

Peptidylarginine deiminase (PADI) 2 catalyzes the post-translational conversion of peptidyl-arginine to peptidyl-citrulline in a process called citrullination. However, the precise functions of PADI2 in bone formation and homeostasis remain unknown. In this study, our objective was to elucidate the function and regulatory mechanisms of PADI2 in bone formation employing global and osteoblast-specific Padi2 knockout mice. Our findings demonstrate that Padi2 deficiency leads to the loss of bone mass and results in a cleidocranial dysplasia (CCD) phenotype with delayed calvarial ossification and clavicular hypoplasia, due to impaired osteoblast differentiation...

Tooth replacement disorders are characterized by retention of deciduous teeth and abnormalities in permanent teeth eruption. Hereditary disorders with multiple teeth involved include cleidocranial dysplasia, osteopetrosis and Gardner syndrome. These rare diseases have great difficulty in treatment with various principles reported. This article focused on clinical manifestations and early treatment principles of these hereditary disorders, as well as the important role of dentists in early diagnosis of these diseases...

OBJECTIVE: Skeletal dysplasia (SD) comprises more than 450 separate disorders. We hypothesized that their dental features would be distinctive and investigated the tooth characteristics of four patients with different SDs. MATERIAL AND METHODS: Four SD patients with molecularly confirmed diagnoses, Pt-1 acromicric dysplasia, Pt-2 hypophosphatasia and hypochondroplasia, Pt-3 cleidocranial dysplasia, and Pt-4 achondroplasia, were recruited. A tooth from each patient was evaluated for mineral density (micro-computerized tomography), surface roughness (surface profilometer), microhardness, mineral contents (energy-dispersive X-ray), and ultrastructure (scanning electron microscopy and histology), and compared with three tooth-type matched controls...

Cleidocranial dysplasia (CCD) is a genetic disorder caused by mutations in the RUNX2 gene, affecting bone and teeth development. Previous studies focused on mutations in the RUNX2 RHD domain, with limited investigation of mutations in the C-terminal domain. This study aimed to investigate the functional consequences of C-terminal mutations in RUNX2. Eight mutations were analyzed, and their effects on transactivation activity, protein expression, subcellular localization, and osteogenic potential were studied...

Tooth eruption is an important and unique biological process during craniofacial development. Both the genetic and environmental factors can interfere with this process. Here we aimed to find the failure pattern of tooth eruption among five genetic diseases. Both systematic review and meta-analysis were used to identify the genotype-phenotype associations of unerupted teeth. The meta-analysis was based on the characteristics of abnormal tooth eruption in 223 patients with the mutations in PTH1R, RUNX2, COL1A1/2, CLCN7, and FAM20A respectively...

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Reactive oxygen species (ROS) are natural products of mitochondrial oxidative metabolism and oxidative protein folding. ROS levels must be well controlled as elevated ROS has been shown to have deleterious effects on osteoblasts. Moreover, excessive ROS is thought to underly many of the skeletal phenotypes associated with aging and sex steroid deficiency in mice and humans. The mechanisms by which osteoblasts regulate ROS and how ROS inhibits osteoblasts are not well understood. Here, we demonstrate that de novo glutathione (GSH) biosynthesis is essential to neutralize ROS and establish a pro-osteogenic REDOX environment...

The ubiquitin-proteasome system (UPS) plays an important role in maintaining cellular homeostasis by degrading a multitude of key regulatory proteins. FBXW11, also known as b-TrCP2, belongs to the F-box family, which targets the proteins to be degraded by UPS. Transcription factors or proteins associated with cell cycle can be modulated by FBXW11, which may stimulate or inhibit cellular proliferation. Although FBXW11 has been investigated in embryogenesis and cancer, its expression has not been evaluated in osteogenic cells...