title: Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation.
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.
authors.affiliation: Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University, 664-14 Duckjindong, Chonju, Chonbuk 561-756 South Korea.
authors.forename: Chaky
authors.initials: C
authors.lastname: Lee
authors.affiliation: Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University, 664-14 Duckjindong, Chonju, Chonbuk 561-756 South Korea.
authors.forename: Hee-Sup
authors.initials: HS
authors.lastname: Jung
authors.affiliation: Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University, 664-14 Duckjindong, Chonju, Chonbuk 561-756 South Korea.
authors.forename: Jin-A
authors.initials: JA
authors.lastname: Baek
authors.affiliation: Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University, 664-14 Duckjindong, Chonju, Chonbuk 561-756 South Korea.
authors.forename: Dae Ho
authors.initials: DH
authors.lastname: Leem
authors.affiliation: Department of Oral and Maxillofacial Surgery, School of Dentistry, Chonbuk National University, 664-14 Duckjindong, Chonju, Chonbuk 561-756 South Korea.
authors.forename: Seung-O
authors.initials: SO
authors.lastname: Ko
keywords: CCD; Cleidocranial dysostosis; Cleidocranial dysplasia; RUNX2 gene mutation (T420I)