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

Chaky Lee; Hee sup Jung; Jin A. Baek; Dae Ho Leem; Seung O. Ko

doi:10.1186/s40902-015-0042-0

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

Chaky Lee
, Hee sup Jung
, Jin A. Baek
, Dae Ho Leem
, Seung O. Ko^*

^*Corresponding author for this work

Department of Dentistry

Jeonbuk National University

Research output: Contribution to journal › Journal article › peer-review

9 Scopus citations

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.

Original language	English
Article number	41
Journal	Maxillofacial Plastic and Reconstructive Surgery
Volume	37
Issue number	1
DOIs	https://doi.org/10.1186/s40902-015-0042-0
State	Published - 2015.12

Keywords

CCD
Cleidocranial dysostosis
Cleidocranial dysplasia
RUNX2 gene mutation (T420I)

Quacquarelli Symonds(QS) Subject Topics

Dentistry
Medicine

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10.1186/s40902-015-0042-0

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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.",

keywords = "CCD, Cleidocranial dysostosis, Cleidocranial dysplasia, RUNX2 gene mutation (T420I)",

author = "Chaky Lee and Jung, \{Hee sup\} and Baek, \{Jin A.\} and Leem, \{Dae Ho\} and Ko, \{Seung O.\}",

note = "Publisher Copyright: {\textcopyright} 2015, Lee et al.",

year = "2015",

month = dec,

doi = "10.1186/s40902-015-0042-0",

language = "English",

volume = "37",

journal = "Maxillofacial Plastic and Reconstructive Surgery",

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TY - JOUR

T1 - Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation

AU - Lee, Chaky

AU - Jung, Hee sup

AU - Baek, Jin A.

AU - Leem, Dae Ho

AU - Ko, Seung O.

PY - 2015/12

Y1 - 2015/12

N2 - 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.

AB - 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.

KW - CCD

KW - Cleidocranial dysostosis

KW - Cleidocranial dysplasia

KW - RUNX2 gene mutation (T420I)

UR - https://www.scopus.com/pages/publications/85009197352

U2 - 10.1186/s40902-015-0042-0

DO - 10.1186/s40902-015-0042-0

M3 - Journal article

AN - SCOPUS:85009197352

SN - 2288-8586

VL - 37

JO - Maxillofacial Plastic and Reconstructive Surgery

JF - Maxillofacial Plastic and Reconstructive Surgery

IS - 1

M1 - 41

ER -

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

Abstract

Keywords

Quacquarelli Symonds(QS) Subject Topics

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