Maxillofacial Plastic and Reconstructive Surgery  2015;37(11):41-

doi:10.1186/s40902-015-0042-0

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

Chaky LEE 1 ; Hee Sup JUNG ; Jin A BAEK ; Dae Ho LEEM ; Seung O KO

Affiliations

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Keywords

Cleidocranial dysplasia; CCD; Cleidocranial dysostosis; RUNX2 gene mutation (T420I)

Country

Republic 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.