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International Journal of Molecular... Apr 2019Runx2 is essential for osteoblast differentiation and chondrocyte maturation. During osteoblast differentiation, Runx2 is weakly expressed in uncommitted mesenchymal... (Review)
Review
Runx2 is essential for osteoblast differentiation and chondrocyte maturation. During osteoblast differentiation, Runx2 is weakly expressed in uncommitted mesenchymal cells, and its expression is upregulated in preosteoblasts, reaches the maximal level in immature osteoblasts, and is down-regulated in mature osteoblasts. Runx2 enhances the proliferation of osteoblast progenitors by directly regulating and . Runx2 enhances the proliferation of suture mesenchymal cells and induces their commitment into osteoblast lineage cells through the direct regulation of hedgehog (, , and ), Fgf ( and ), Wnt (, , and ), and Pthlh () signaling pathway genes, and . heterozygous mutation causes open fontanelle and sutures because more than half of the gene dosage is required for the induction of these genes in suture mesenchymal cells. Runx2 regulates the proliferation of osteoblast progenitors and their differentiation into osteoblasts via reciprocal regulation with hedgehog, Fgf, Wnt, and Pthlh signaling molecules, and transcription factors, including Dlx5 and Sp7. Runx2 induces the expression of major bone matrix protein genes, including , , , , and , in vitro. However, the functions of Runx2 in differentiated osteoblasts in the expression of these genes in vivo require further investigation.
Topics: Animals; Cell Differentiation; Cell Proliferation; Core Binding Factor Alpha 1 Subunit; Humans; Osteoblasts
PubMed: 30987410
DOI: 10.3390/ijms20071694 -
Sudanese Journal of Paediatrics 2019We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary...
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 (runt-related transcription factor 2-). The girl remains under close surveilance, her anterior fontanelle closed spontaneously at the age of 9 years.
PubMed: 31969747
DOI: 10.24911/SJP.106-1549652213 -
Journal of Ayub Medical College,... 2019Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. We report a neonate born to consanguineously married...
Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. We report a neonate born to consanguineously married normal parents with typical clinical and radiologic features of Yunis-Varon syndrome along with complete cleft lip and palate: an infrequent association. The family had two previous babies with similar features who died in infancy. This is a first reported case of Yunis-Varon syndrome in Pakistan.
Topics: Cleft Lip; Cleft Palate; Cleidocranial Dysplasia; Consanguinity; Ectodermal Dysplasia; Fatal Outcome; Female; Humans; Infant, Newborn; Limb Deformities, Congenital; Micrognathism; Pakistan
PubMed: 31094135
DOI: No ID Found -
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi... May 2022Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1...
Cleidocranial dysplasia is a rare autosomal dominant hereditary disease that mainly affects the skeletal and dental development and has an incidence rate of about 1∶1 000 000. In this study, a case of cranio-clavicular dysplasia was reported, and related literature was reviewed. RUNX2 6p21.1 NM_001024630.3 Exon4 c.534dupAp.(Val179fs) was identified to be a new frameshift mutation by gene analysis.
PubMed: 38597020
DOI: 10.7518/hxkq.2022.03.018 -
National Journal of Maxillofacial... 2014Cleidocranial dysplasia (CCD) is an autosomal dominant disorder resulting in the skeletal and dental abnormalities due to the disturbance in ossification of the bones....
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder resulting in the skeletal and dental abnormalities due to the disturbance in ossification of the bones. Clavicle is the most commonly affected bone. The prevalence of CCD is one in millions of live births. In this report, we present a case of 10-years-old boy showing features of this condition.
PubMed: 25937737
DOI: 10.4103/0975-5950.154838 -
Journal of Dental Sciences Dec 2017Cleidocranial dysplasia (CCD) is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected... (Review)
Review
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.
PubMed: 30895069
DOI: 10.1016/j.jds.2017.07.002 -
Contemporary Clinical Dentistry Jul 2012Scheuthauer-Marie-Sainton syndrome also known as Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characteristically presented with multiple supernumerary...
Scheuthauer-Marie-Sainton syndrome also known as Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characteristically presented with multiple supernumerary teeth; partial or complete absence of the clavicles; and open sagittal sutures and fontanelles. This condition was first reported by Meckel in 1760. There is also evidence that it existed in the prehistoric man. More than 1,000 cases have been reported in the medical literature regarding this syndrome. A case of a 35-year-male of CCD with multiple supernumerary teeth is being reported. The diagnostic and management aspects of this syndrome are discussed.
PubMed: 23293495
DOI: 10.4103/0976-237X.103632 -
Lung India : Official Organ of Indian... Jul 2010Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closer of cranial sutures, hypoplastic or...
Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closer of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. We present a seven-year-old female child presenting with classical features of cleidocranial dysplasia.
PubMed: 20931042
DOI: 10.4103/0970-2113.68322 -
BMC Oral Health Dec 2022Cleidocranial dysplasia (CCD) is a rare and underdiagnosed congenital disorder in dentistry. The purpose of this study was to illustrate and quantify the maxillofacial...
BACKGROUND
Cleidocranial dysplasia (CCD) is a rare and underdiagnosed congenital disorder in dentistry. The purpose of this study was to illustrate and quantify the maxillofacial bone abnormalities detected on panoramic radiographs from a relatively large retrospective case series and to provide a series of diagnostic references for dentists to indicate the presence of disease and help in making an early and accurate diagnosis.
METHODS
The dental panoramic radiographs of thirty CCD patients aged 11 to 45 years (18 males and 12 females) were examined retrospectively. The dentition states, including supernumerary teeth and impacted teeth, were recorded. Twelve quantified measurements were adopted to determine the abnormalities of maxillofacial bones, including the degree of the zygomatic arch downward bend, bicondylar breadth, ramal height, mandibular height, mandibular aspect ratio, mandibular body height, condylar height, coronoid height, distance between the coronoid process and the condyle, bigonial width, gonial angle and best-fit gonial circle diameter. The Wilcoxon rank-sum test was used to compare the findings of the CCD patients with those of their matched controls (n = 300).
RESULTS
Supernumerary teeth were detected in 27 patients (90.0%), and all 30 patients presented impacted teeth. Compared to the matched controls, the CCD patients had a significantly larger degree of zygomatic arch downward bend (ZAD), a larger diameter of the best-fit gonial circle (BGC), and a shorter distance between the coronoid process and the condyle (DCC) in panoramic radiographs (P < 0.001). According to the reference cutoff values established from the 5th or 95th percentile of the measurements in the control group, ZAD higher than 6.90 mm, DDC less than 22.37 mm and BGC higher than 52.41 mm were significantly associated with the CCD features identified. Other panoramic measurements were not significantly different between the two groups.
CONCLUSIONS
Panoramic radiographs had great value in the diagnosis of CCD. In this study, we identified some dental and maxillofacial features on panoramic radiographs from a relatively large retrospective case series of CCD. A series of reliable quantitative indicators were provided for dentists that can indicate the presence of disease and improve the diagnostic specificity.
Topics: Female; Male; Humans; Cleidocranial Dysplasia; Radiography, Panoramic; Retrospective Studies; Tooth, Supernumerary; Tooth, Impacted
PubMed: 36456973
DOI: 10.1186/s12903-022-02610-7