The Spectrum of Disorder : Cleidocranial Dysplasia
Keywords:
Keywords : Cleidocranial dysplasia, CBFA1, RUNX2
Abstract
Cleidocranial dysplasia (CCD) is a complex congenital defect characterized by dysplastic bone formation. It is caused by mutations in 6p21 gene encoding transcription factor Core Binding Factor Subunit Alpha 1 ( CBFA1) or Runt related transcription factor 2 (RUNX2) , which is involved in osteoblasts differentiation and bone formation. This paper reports a case of 20 year old female patient with cleidocranial dysplasia and the characteristic routine radiographs aided diagnostic conclusion to the case.
References
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3. Chaky Lee, Hee-sup Jung, Jin-A Baek, Dae Ho Leem and Seung-O Ko. Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation. Lee et al. Maxillofacial Plastic and Reconstructive Surgery (2015) 37:41 DOI 10.1186/s40902-015-0042-0
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8. Dr. Nivedita Ckvs et al. Cleidocranial Dysplasia - A Case Report And Review of Literature. IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) e-ISSN: 2279-0853, p-ISSN: 2279-0861.Volume 15, Issue 12 Ver. II (December. 2016), PP 20-25 www.iosrjournals.org. DOI: 10.9790/0853-1512022025
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10. Jensen BL, Kreiborg S (1995) Craniofacial growth in cleidocranial dysplasia—a roentgencephalometric study. J Craniofac Genet Dev Biol 15:35–43 .
11. McNamara CM, O’Riordan BC, Blake M, Sandy JR (1999) Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol 28:89–97
12. Jensen BL, Kreiborg S (1992) Dental treatment strategies in cleidocranial dysplasia. Br Dent J 172:243–247
2. Machol K, Mendoza-Londono R, Lee B. Cleidocranial Dysplasia Spectrum Disorder. 2006 Jan 3 [Updated 2017 Nov 16]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/
3. Chaky Lee, Hee-sup Jung, Jin-A Baek, Dae Ho Leem and Seung-O Ko. Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation. Lee et al. Maxillofacial Plastic and Reconstructive Surgery (2015) 37:41 DOI 10.1186/s40902-015-0042-0
4. Abdelnasir G Ahmad et al. Full mouth rehabilitation of a patient with Cliedocranial Dysplasia using immediate loaded basal implant - supported fixed prosthesis : A case report. https://doi.org/10.1016/j.ijscr.2019.11.005
5. Yanfei Zhu, Yin Zou, Qian Yu, Huijun Sun, Sixuan Mou1, Shuhua Xu and Min Zhu.Combined surgical-orthodontic treatment of patients with cleidocranial dysplasia: case report and review of the literature. Zhu et al. Orphanet Journal of Rare Diseases (2018) 13:217 https://doi.org/10.1186/s13023-018-0959-3
6. Sarbjeet Singh, Sumeet Sharma, harvinder Singh, niKhil dev Wazir. Cleidocranial Dysplasia: A Case Report Illustrating Diagnostic Clinical and Radiological Findings. DOI: 10.7860/JCDR/2014/9085.4499
7. Vanesa Villamil et al. Cleidocranial dysostosis: a case report with clinical illustration. Pan African Medical Journal. 2021;38(368). 10.11604/pamj.2021.38.368.29204
8. Dr. Nivedita Ckvs et al. Cleidocranial Dysplasia - A Case Report And Review of Literature. IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) e-ISSN: 2279-0853, p-ISSN: 2279-0861.Volume 15, Issue 12 Ver. II (December. 2016), PP 20-25 www.iosrjournals.org. DOI: 10.9790/0853-1512022025
9. TELKAR S R , KERUDI V V , DODAMANI A, PRASHANTH V K. Cleidocranial Dysplasia – Report Of a Case.Journal of Clinical and Diagnostic Research [serial online] 2010 April [cited: 2010 April 5]; 4:2354-2357.
10. Jensen BL, Kreiborg S (1995) Craniofacial growth in cleidocranial dysplasia—a roentgencephalometric study. J Craniofac Genet Dev Biol 15:35–43 .
11. McNamara CM, O’Riordan BC, Blake M, Sandy JR (1999) Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol 28:89–97
12. Jensen BL, Kreiborg S (1992) Dental treatment strategies in cleidocranial dysplasia. Br Dent J 172:243–247
Published
2023-11-03
How to Cite
Khanal , N. (2023). The Spectrum of Disorder : Cleidocranial Dysplasia. UNIVERSITY JOURNAL OF DENTAL SCIENCES, 10(1). https://doi.org/10.21276/ujds.2024.10.1.8
Section
Case Reports
