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

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 a...

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Autores principales: Lee, Chaky, Jung, Hee-sup, Baek, Jin-A, Leem, Dae Ho, Ko, Seung-O
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643116/
https://www.ncbi.nlm.nih.gov/pubmed/26594640
http://dx.doi.org/10.1186/s40902-015-0042-0
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author Lee, Chaky
Jung, Hee-sup
Baek, Jin-A
Leem, Dae Ho
Ko, Seung-O
author_facet Lee, Chaky
Jung, Hee-sup
Baek, Jin-A
Leem, Dae Ho
Ko, Seung-O
author_sort Lee, Chaky
collection PubMed
description 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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spelling pubmed-46431162015-11-18 Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation Lee, Chaky Jung, Hee-sup Baek, Jin-A Leem, Dae Ho Ko, Seung-O Maxillofac Plast Reconstr Surg Case Report 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. Springer Berlin Heidelberg 2015-11-12 /pmc/articles/PMC4643116/ /pubmed/26594640 http://dx.doi.org/10.1186/s40902-015-0042-0 Text en © Lee et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Case Report
Lee, Chaky
Jung, Hee-sup
Baek, Jin-A
Leem, Dae Ho
Ko, Seung-O
Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
title Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
title_full Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
title_fullStr Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
title_full_unstemmed Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
title_short Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation
title_sort manifestation and treatment in a cleidocranial dysplasia patient with a runx2 (t420i) mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643116/
https://www.ncbi.nlm.nih.gov/pubmed/26594640
http://dx.doi.org/10.1186/s40902-015-0042-0
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