Cleidocranial Dysplasia
CLEIDOCRANIAL DYSPLASIA: A CASE REPORT
... Cleidocranial dysplasia (CCD) is a rare autosomal dominant disease with a wide range of clinical variability. Dentists are often the first to encounter such patients, some of whom may not even show typical ...
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Original Article A novel frameshift mutation in the NMTS domain of RUNX2 in a Chinese family with cleidocranial dysplasia
... Abstract: Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disorder, caused by heterozy- gous mutations of Runx2. This study aimed to investigate the Runx2 mutation in a Chinese ...
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Case Report Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report
... Cleidocranial dysplasia (CCD) is a rare congeni- tal malformation syndrome, inherited autoso- mal-dominantly. CCD was first described in 1897 by Pierre Marie and Paul Sainton [1]. The prevalence is 1 in ...
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Advantages of cone beam computed tomography (CBCT) in the orthodontic treatment planning of cleidocranial dysplasia patients: a case report
... Cleidocranial dysplasia (CCD), also known as cleidocra- nial dysostosis or Marie-Sainton syndrome, is a disorder that affects most prominently those bones derived from endochondral and intramembranous ...
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Case Report Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia
... Background: Cleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 ...with ...
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Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model
... Cleidocranial dysplasia (CCD) is a dominantly inher- ited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of the clavicles, short stat- ure, and supernumerary ...
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A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
... Background: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 ( RUNX2 ) ...
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A 13 year old caucasian boy with cleidocranial dysplasia: a case report
... Background: Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm ...
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Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
... Formerly, the disease was considered only to influ- ence the skull, clavicle, and flat bone which undergo intramembranous ossification and, therefore, called cleidocranial dysostosis. However, it was reported from ...
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Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature
... of cleidocranial dysplasia, and (3) cases treated with the approach combin- ing surgical exposure and orthodontic ...OR cleidocranial dysplasia OR cleidocranial dysostosis) AND ...
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Cleidocranial dysplasia presenting with retained deciduous teeth in a 15 year old girl: a case report
... in cleidocranial dysplasia are charac- terized by a decreased eruptive force of both primary and permanent dentition, prolonged retention of pri- mary teeth [3] and an increase in odontogenesis leading to ...
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Original Article A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia
... Cleidocranial dysplasia was originally described as dento-osseous dysplasia affecting several individuals in a large ...a dysplasia [9]. Multiple cases with Cleidocranial ...
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Cleidocranial Dysplasia: A case report
... The cleidocranial dysplasia, also known as Marie and Sainton Sainton Syndrome and Mutational disease which can occur either spontaneously or by a dominant autosomal inheritance, with no predilection of ...
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Prospective signs of cleidocranial dysplasia in Cebpb deficiency
... Background: Although runt-related transcription factor 2 (RUNX2) has been considered a determinant of cleidocranial dysplasia (CCD), some CCD patients were free of RUNX2 mutations. CCAAT/enhancer-binding ...
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Identification of RUNX2 variants associated with cleidocranial dysplasia
... Cleidocranial dysplasia (CCD; OMIM #119600) is a rare autosomal dominant disorder mainly charac- terised by hypoplastic or absent clavicles, delayed closure of fontanelles, multiple dental abnormalities, ...
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Original Article A novel intragenic microdeletion in RUNX2 in a Chinese family with cleidocranial dysplasia
... Cleidocranial dysplasia (CCD; MIM 119600), also known as Scheuthauer-Marie-Sainton dis- ease or cleidocranial dysostosis, was initially described accurately by Scheuthauer in 1871 ...
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Cleidocranial dysplasia syndrome with epilepsy: a case report
... Cleidocranial dysplasia is a rare autosomal dominant hereditary skeletal disease (MIM number is 600211). A few of these cases were familial and most were sporadic. There was no significant difference in the ...
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Asymptomatic Tonsillar Herniation in a Neonate With Cleidocranial Dysplasia
... with cleidocranial dysplasia on the basis of prenatal ultrasound fi ndings and molecular testing of the RUNX2 ...with cleidocranial dysplasia to demonstrate the striking posterior fossa fi ...
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Delayed diagnosis of cleidocranial dysplasia in an adult: A case report
... of cleidocranial dysplasia, an auto- somal dominant inherited disease involving the skeleton and teeth, with delayed ...with cleidocranial dysplasia admitted with hearing loss, rhinolalia, ...
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The importance of adequate dental management to the patient with Cleidocranial Dysostosis: Case report
... Roberts T, et al. Cleidocranial dysplasia: a review of the dental, historical, and practical implications with an overview of the South African experience. Oral Surg. Oral Med. Oral Pathol. Oral Radiol. ...
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