Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation.
10.1186/s40902-015-0042-0
- Author:
Chaky LEE
1
;
Hee Sup JUNG
;
Jin A BAEK
;
Dae Ho LEEM
;
Seung O KO
Author Information
1. Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University, 664-14 Duckjindong, Chonju, Chonbuk 561-756 South Korea. omfslck23@gmail.com
- Publication Type:Case Report
- Keywords:
Cleidocranial dysplasia;
CCD;
Cleidocranial dysostosis;
RUNX2 gene mutation (T420I)
- MeSH:
Clavicle;
Cleidocranial Dysplasia*;
Core Binding Factors;
Dental Implants;
Humans;
Prostheses and Implants;
Tooth;
Tooth Eruption
- From:Maxillofacial Plastic and Reconstructive Surgery
2015;37(11):41-
- CountryRepublic of Korea
- Language:English
-
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.
