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Three-dimensional evaluation of dental characteristics in patients with Cleidocranial dysplasia [PDF]
Background Cleidocranial dysplasia (CCD) is an autosomal dominant hereditary disorder. Besides skeletal abnormalities, CCD is often associated with dental complications, such as multiple supernumerary teeth and permanent teeth impaction or delayed ...
Yang Lu +3 more
doaj +2 more sources
Craniofacial features of cleidocranial dysplasia
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 ...
Chin-Yun Pan +3 more
doaj +3 more sources
Cleidocranial dysplasia: A family report
A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD). Her father also presented similar features with a lesser
Chelvan H +3 more
doaj +3 more sources
Correlation of RUNX2 Variants With Craniofacial-Dental Phenotypes in Cleidocranial Dysplasia. [PDF]
ABSTRACT Objectives Cleidocranial dysplasia (CCD) is a rare RUNX2‐related skeletal disorder characterized by craniofacial anomalies and skeletal Class III malocclusion. However, the relationship between RUNX2 variant type and phenotype severity remains unclear. This study aimed to evaluate the association between RUNX2 variant types and the severity of
Chantarawaratit PO +3 more
europepmc +2 more sources
Cleidocranial Dysplasia: A Case Report Highlighting Dental, Craniofacial, and Skeletal Complexity. [PDF]
ABSTRACT Cleidocranial dysplasia (CCD) is a rare congenital skeletal disorder characterized by clavicular hypoplasia, craniofacial anomalies, and complex dental abnormalities, commonly caused by RUNX2 gene mutations. This report describes a 25‐year‐old female who presented with acute dental pain.
Giri AK, Thapa B, Chaudhary M.
europepmc +2 more sources
A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia. [PDF]
Following clinical review of a 100 000 Genomes Project family with genetically‐unsolved CCD, we manually inspected read‐alignments and identified a deletion‐inversion‐deletion that removes the first two exons of CBFB. This cryptic variant comprised deletions of 1310/1935bp, was undetectable by array‐CGH and was likely mediated by palindromic AluSx ...
Pagnamenta AT +6 more
europepmc +2 more sources
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 ...
Stepan, Kutilek +2 more
openaire +2 more sources
Delayed diagnosis of cleidocranial dysplasia in an adult: A case report [PDF]
Objective. To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. Case report.
Cengiz Gömleksiz +4 more
doaj +1 more source
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.
Dhiman, Neeraj Kumar +3 more
openaire +4 more sources
Prevalence, etiology, diagnosis, treatment and complications of supernumerary teeth [PDF]
The aim of this article was to review the literature on supernumerary teeth, analyzing their prevalence, etiology, diagnosis, treatment and possible complications.
Ata-Ali Mahmud, Fadi +3 more
core +4 more sources

