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Maxillofacial Plastic and Reconstructive Surgery

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Open Access 01-12-2015 | Case report

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

Authors: Chaky Lee, Hee-sup Jung, Jin-A Baek, Dae Ho Leem, Seung-O Ko

Published in: Maxillofacial Plastic and Reconstructive Surgery | Issue 1/2015

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.

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Title: Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
Authors: Chaky Lee
Hee-sup Jung
Jin-A Baek
Dae Ho Leem
Seung-O Ko
Publication date: 01-12-2015
Publisher: Springer Berlin Heidelberg
Published in: Maxillofacial Plastic and Reconstructive Surgery / Issue 1/2015
Electronic ISSN: 2288-8586
DOI: https://doi.org/10.1186/s40902-015-0042-0

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Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

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Abstract

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