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http://dx.doi.org/10.1186/s40902-015-0042-0

Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation  

Lee, Chaky (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University)
Jung, Hee-sup (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University)
Baek, Jin-A (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University)
Leem, Dae Ho (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University)
Ko, Seung-O (Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University)
Publication Information
Maxillofacial Plastic and Reconstructive Surgery / v.37, no., 2015 , pp. 41.1-41.6 More about this Journal
Abstract
Cleidocranial dysplasia is an autosomal dominant heritable skeletal disorder. The characteristic features of cleidocranial dysplasia (CCD) may include hypoplasia of the clavicle, delayed closure of frontanelles, late tooth eruption, and other skeletal disorders. This case report describes clinical and radiographic manifestations at the age of 11 and 29 of a CCD patient, investigates the mutation of core-binding factor A1 (CBFA1) based on gene analysis, and illustrates successful oral reconstruction with fixed prosthesis and dental implant after the extraction of multiple teeth.
Keywords
Cleidocranial dysplasia; CCD; Cleidocranial dysostosis; RUNX2 gene mutation (T420I);
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