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Cleidocranial Dysplasia

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https://www.readbyqxmd.com/read/29769514/cleidocranial-dysplasia-presentation-of-clinical-and-radiological-features-of-a-rare-syndromic-entity
#1
R Modgil, K S Arora, A Sharma, S Mohapatra, S Pareek
Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited and be transmitted as dominant characteristics in either gender, or may appear spontaneously. It presents with skeletal defects of several bones, such as partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones. The dental manifestations are mainly delayed exfoliation of primary teeth and delayed eruption of permanent teeth with multiple impacted supernumerary teeth...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29666333/a-novel-alu-mediated-microdeletion-in-the-runx2-gene-in-a-chinese-patient-with-cleidocranial-dysplasia
#2
Yunzhu Qian, Yingying Zhang, Bin Wei, Mengshu Zhang, Jianxin Yang, Cuihua Leng, Zili Ge, Xingshun Xu, Miao Sun
Cleidocranial dysplasia (CCD; OMIM: 119600) is a rare autosomal dominant skeletal dysplasia caused by RUNX2 gene mutations. The present study described a sporadic case with CCD. The clinical data of the proband with CCD was reported and genetic analysis was performed. The proband presented with typical CCD features including supernumerary impacted teeth, bilateral clavicle dysplasia, delayed closure of cranial sutures, and short stature; while his hands were normal. Sequencing analysis of the entire coding region of the RUNX2 gene revealed no pathogenic changes; however, copy-number analysis with the Affymetrix HD array found ~500 kb genomicmicrodeletion...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29664332/characterization-of-dental-phenotype-in-patients-with-cleidocranial-dysplasia-using-longitudinal-data
#3
Sang-Woon Ha, Yu-Jin Jung, Han-Sol Bae, Hyun-Mo Ryoo, Il-Sik Cho, Seung-Hak Baek
OBJECTIVE: To investigate the characteristics of the dental phenotype in patients with cleidocranial dysplasia (CCD) using longitudinal data. MATERIALS AND METHODS: Twelve unrelated Korean CCD patients were observed using a longitudinal series of radiographs and clinical photographs. Statistical analysis was performed on the dental phenotypic data. RESULTS: Although dysplasia of the clavicles, open fontanelle, and wormian bone were observed in all 12 patients, delayed fusion of the mandibular symphysis was found in four patients...
April 17, 2018: Angle Orthodontist
https://www.readbyqxmd.com/read/29653004/-genetic-analysis-of-a-child-with-cleidocranial-dysplasia-and-6q21-q22-31-microdeletion
#4
Dong Wu, Tao Li, Qiaofang Hou, Xiaodong Huo, Xin Wang, Tao Wang, Yanli Yang, Hongli Liu, Shixiu Liao
OBJECTIVE: To carry out genetic analysis on a child with developmental delay and multiple malformation. METHODS: The karotypes of the child and her parents were analyzed with routine chromosomal G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH). RESULTS: The karyotype of the proband was determined as 46,XX,del(6)(q22),inv(6)(p21.1q21), while no karyotypic abnormality was detected in her parents. aCGH has identified in the child a de novo 800 kb deletion encompassing the RUNX2 gene at 6p21...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29520374/cleidocranial-dysplasia-dental-disorder-treatment-and-audiology-diagnosis
#5
Teresa Matthews-Brzozowska, Dorota Hojan-Jezierska, Wawrzyniec Loba, Marta Worona, Artur Matthews-Brzozowski
A review of numerous case reports was made, in order to demonstrate the possibilities for treatment of dental disorders in patients with Cleidocranial dysplasia (CCD). In this paper, our own report, including a diagnosis of the effect on the auditory system, is presented. In addition to the triad of CCD symptoms that include hypoplastic or aplastic clavicles, impacted and supernumerary teeth, delayed closure of fontanelles and cranial sutures, impairment of the hearing system resulting in conductive hearing loss also occurs...
2018: Open Medicine (Warsaw, Poland)
https://www.readbyqxmd.com/read/29498969/surgical-management-and-evaluation-of-the-craniofacial-growth-and-morphology-in-cleidocranial-dysplasia
#6
Stephen L Greene, Chung How Kau, Somsak Sittitavornwong, Kathlyn Powell, Noel K Childers, Mary MacDougall, Ejvis Lamani
Cleidocranial dysplasia (CCD, MIM 119600) is a rare autosomal dominant disorder affecting bone, cartilage, craniofacial growth, and tooth formation leading to supernumerary teeth. Few reports delineate the genotype-phenotype correlations related to the variations in craniofacial morphology and patterning of the dentition and the complexity of treating patient's malocclusion. Successful management of the craniofacial deformities in patients with CCD requires a multidisciplinary team of healthcare specialists...
March 1, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29487646/multiple-unerupted-and-supernumerary-teeth-in-a-patient-with-cleidocranial-dysplasia
#7
Galal Omami
Cleidocranial dysplasia is an extremely rare familial disorder characterized by partial or complete absence of clavicles, characteristic craniofacial deformities, and the presence of numerous supernumerary and unerupted teeth. Here, the author reviews the striking radiographic findings of cleidocranial dysplasia in a 16-year-old adolescent boy who presented with delayed teeth eruption.
February 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29457112/anesthetic-management-during-a-cesarean-section-in-a-patient-with-cleidocranial-dysplasia-a-case-report
#8
Yumiko Nishio, Teruyuki Hiraki, Hiroko Taniguchi, Kazuo Ushijima
Background: Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures. It causes facial and oral abnormalities, resulting in difficult airway management and neuraxial anesthesia. Case presentation: The patient was a 24-year-old primipara (height 138 cm, weight 42 kg) with a hypoplastic right clavicle, patent fontanelles, dental malalignment, and a high palate. She was diagnosed with cleidocranial dysplasia at birth, although gene examination has not been performed...
2018: JA Clinical Reports
https://www.readbyqxmd.com/read/29357927/targeted-reversion-of-induced-pluripotent-stem-cells-from-patients-with-human-cleidocranial-dysplasia-improves-bone-regeneration-in-a-rat-calvarial-bone-defect-model
#9
Akiko Saito, Akio Ooki, Takashi Nakamura, Shoko Onodera, Kamichika Hayashi, Daigo Hasegawa, Takahito Okudaira, Katsuhito Watanabe, Hiroshi Kato, Takeshi Onda, Akira Watanabe, Kenjiro Kosaki, Ken Nishimura, Manami Ohtaka, Mahito Nakanishi, Teruo Sakamoto, Akira Yamaguchi, Kenji Sueishi, Toshifumi Azuma
BACKGROUND: Runt-related transcription factor 2 (RUNX2) haploinsufficiency causes cleidocranial dysplasia (CCD) which is characterized by supernumerary teeth, short stature, clavicular dysplasia, and osteoporosis. At present, as a therapeutic strategy for osteoporosis, mesenchymal stem cell (MSC) transplantation therapy is performed in addition to drug therapy. However, MSC-based therapy for osteoporosis in CCD patients is difficult due to a reduction in the ability of MSCs to differentiate into osteoblasts resulting from impaired RUNX2 function...
January 22, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29242628/mutant-runx2-regulates-amelogenesis-and-osteogenesis-through-a-mir-185-5p-dlx2-axis
#10
Huaiguang Chang, Yue Wang, Haochen Liu, Xu Nan, Singwai Wong, Saihui Peng, Yajuan Gu, Hongshan Zhao, Hailan Feng
Regulation of microRNAs (miRNA) has been extensively investigated in diseases; however, little is known about the roles of miRNAs in cleidocranial dysplasia (CCD). The aim of the present study was to investigate the potential involvement of miRNAs in CCD. In vitro site-directed mutagenesis was performed to construct three mutant Runx2 expression vectors, which were then transfected into LS8 cells and MC3T3-E1 cells, to determine the impact on amelogenesis and osteogenesis, respectively. miRCURY LNA miRNA microarray identify miR-185-5p as a miRNA target commonly induced by all three Runx2 mutants...
December 14, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29233684/mmu-mir-1963-negatively-regulates-the-ameloblast-differentiation-of-ls8-cell-line-by-directly-targeting-smoc2-3-utr
#11
Yue Wang, Huaiguang Chang, Haochen Liu, Yang Liu, Dong Han, Jinhao Xing, Hongshan Zhao, Hailan Feng
RUNX2 is a key regulator of osteogenic differentiation and odontoblastic differentiation. RUNX2 mutations could cause Cleidocranial dysplasia (CCD; OMIM119600), which is featured by abnormal development of bone and teeth. By using microRNA array, we identified a large number of microRNAs that showed different expression between wild-type Runx2 group and mutant groups. The aim of this study is to find out the effect of mmu-miR-1963, which was downregulated in all mutant Runx2 groups, on the ameloblast differentiation of LS8 cells...
January 15, 2018: Experimental Cell Research
https://www.readbyqxmd.com/read/29189406/cleidocranial-dysplasia-a-review-of-clinical-radiological-genetic-implications-and-a-guidelines-proposal
#12
Emilie Farrow, Romain Nicot, Axel Wiss, Amélie Laborde, Joël Ferri
In this review, we aimed to depict the clinical, radiological, and genetic features of cleidocranial dysplasia (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications.The most common craniofacial features of CCD that stand out are a patency of the anterior fontanelle, an inverted pear-shaped calvaria, a hypertelorism, a general midface retrusion, and a mandible prognathism, associated with an excessive mobility of the shoulders, a short stature, and teeth abnormalities such as supernumerary teeth and failure of eruption, in particular...
March 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29089101/a-novel-18-bp-in-frame-deletion-mutation-in-runx2-causes-cleidocranial-dysplasia
#13
Li Zeng, Jiahui Wei, Na Zhao, Shichen Sun, Yixiang Wang, Hailan Feng
OBJECTIVES: Runt-related transcription factor 2 (RUNX2) gene is known to cause rare autosomal dominant skeletal disorder Cleidocranial dysplasia (CCD). Here, we explored a novel, large deletion in RUNX2 gene in a Chinese patient with CCD and the function associated with the mutation. DESIGN: Genomic DNA was extracted from the peripheral blood and subjected to do DNA sequencing. Sanger sequencing was used to do mutational analysis of the RUNX2 gene. Function associated with RUNX2 mutation was investigated by performing conservation analysis, secondary structure analysis, subcellular localization study and reporter assay...
October 27, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29058294/a-novel-gene-mutation-of-runx2-in-cleidocranial-dysplasia
#14
You-Jian Peng, Qiao-Yun Chen, Dong-Jie Fu, Zhi-Ming Liu, Tian-Tian Mao, Jun Li, Wen-Ting She
Haploinsufficiency of the runt-related transcription factor 2 (Runx2) gene is widely known to be responsible for cleidocranial dysplasia (CCD). To date, more than 190 mutations in Runx2 gene have been reported to be related to CCD. In this study, a novel mutation of Runx2 gene was observed in a female with CCD. Genomic DNA was extracted from peripheral venous blood of the proband and eleven members of her family. Genetic testing on these twelve people identified a novel missense mutation (c.895 T>C, Y299H) in exon 5 of the RUNX2 gene in the proband...
October 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/28964668/multidisciplinary-team-approach-in-the-oral-rehabilitation-of-patients-with-cleidocranial-dysplasia-to-achieve-a-functional-aesthetic-outcome
#15
D Patel, N Patel, P A Brennan, J Kwok
Cleidocranial dysplasia is a hereditary congenital disorder that results in delayed ossification of midline structures, and is caused by mutations in the RunX2 (runt-related transcription factor 2) gene located on the short arm of chromosome 6. Successful treatment depends on multidisciplinary assessment and a comprehensive staged treatment plan. We present a case series of 12 patients who were managed with a specifically tailored combination of surgery, orthodontics, and prosthodontics to provide a functional dentition and restore their smile and facial contour...
November 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28898321/-cleidocranial-dysplasia-a-case-report
#16
Olga Medina, Nelson Muñoz, Carlos Moneriz
INTRODUCTION: Cleidocraneal dysplasia (CCD) is a rare skeletal autosomal dominant syndrome characterized by dental anomalies and bone abnormalities. These clinical manifestations do not require treatment in most cases. The disease is caused by mutation in the gene RUNX2 (CBAF1), located on the short arm of chromosome 6. OBJECTIVE: To report a case of CCD and perform a literature review focused on clinical manifestations and diagnosis. CASE REPORT: A 3 year old patient, who was clinically diagnosed with CCD since birth...
2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28889021/maxillary-sinuses-and-midface-in-patients-with-cleidocranial-dysostosis
#17
Tomasz Kulczyk, Agnieszka Przystańska, Artur Rewekant, Renata Turska-Malińska, Agata Czajka-Jakubowska
The cleidocranial dysplasia is general skeletal disorder with an autosomal dominant inheritance. It is manifested by many craniofacial abnormalities, of which the maxillary hypoplasia is the most evident. The aim of the study was to use CBCT to evaluate the volume of the maxillary sinuses and the dimensions of maxillae in patients with CCD and compare them with healthy individuals. Files of four children with cleidocranial dysplasia were investigated. Volume of every maxillary sinus as well as two dimensional measurements of distances between particular points of interest located on surface of maxilla were calculated from reconstructed CBCT examination...
September 6, 2017: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/28878609/novel-mutation-of-the-runx2-gene-in-patients-with-cleidocranial-dysplasia
#18
Ewa Hordyjewska, Anna Jaruga, Grzegorz Kandzierski, Przemko Tylzanowski
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder linked to mutations in the Runt-related transcription factor 2, encoded by the RUNX2 gene, which is essential for osteoblast differentiation and skeletal development. Here, we describe a novel nonsense mutation (c.532C>T; p.Q178X) in RUNX2 identified in 3 affected members of a Polish family with CCD. The localization and transcriptional transactivation studies show that the mutated form of the protein has altered the subcellular localization and significantly decreased transactivation properties, respectively...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28738062/analysis-of-novel-runx2-mutations-in-chinese-patients-with-cleidocranial-dysplasia
#19
Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c...
2017: PloS One
https://www.readbyqxmd.com/read/28703881/a-novel-runx2-mutation-in-exon-8-g462x-in-a-patient-with-cleidocranial-dysplasia
#20
Yu-Jin Jung, Han-Sol Bae, Hyun-Mo Ryoo, Seung-Hak Baek
To identify a novel mutation of Runx2 gene in Cleidocranial Dysplasia (CCD) patients and to characterize the functional consequences of this mutation. The subjects consisted of 12 Korean CCD patients. After oral epithelial cells were collected using a mouthwash technique, genomic DNA was extracted. Screening for Runx2 mutation was performed using direct sequencing of polymerase chain reaction (PCR) products for exons 1-8. Restriction fragment length polymorphism (RFLP) analysis was performed to confirm the novel mutation...
January 2018: Journal of Cellular Biochemistry
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