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Kleidokranial displazi: klinik, radyografik ve genetik bulgularla bir olgu sunumu

Year 2012, Volume: 2 Issue: 2, 84 - 88, 31.01.2014

Abstract

Amaçlar: Bu çalışmanın amacı kleidokranial displazi (disostozis)li bir hastayı sunmaktır.
Yöntem: Kleidokranial displazili bir hasta oligodonti şikayeti ile Marmara Üniversitesi Dişhekimliği Fakültesi Oral Diagnoz ve Radyoloji Kliniği’ne başvurmuştur. Ekstra oral fiziksel muayenede; omuzunu hareket ettirmesi istendiğinde humeral başların normalden daha yakına geldiği görüldü. İntra-oral muayenede maksillada atrezi, derin damak ve mikst dentisyon olduğu belirlendi. Gömük dişlerin daha detaylı görüntülenmesi için dental volumetrik tomografi alındı. Klinik ve radyolojik muayeneyi teyit etmek için genetik analiz yapıldı. Hasta çocuk ve annesinden alınan kan örneklerinde High PCR Template Preparation Kit kullanılarak DNA incelemesi yapıldı.
Bulgular: Genin ilk iki eksonu primer kullanılarak genişletildi. İki adet sıralanmış eksonda herhangi bir mutasyon izlenmedi.
Sonuçlar: Bu hastalarda ortodontik ve cerrahi tedavi uygundur. Bu vakanın tedavi planlaması periodontal, cerrahi ve ortodontik tedavileri içermektedir ve gerektiğinde protetik rehabilitasyon planlanmıştır.

References

  • Segal N, Puterman M. Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations. Int J Pediatr Otorhinolaryngol. 2007;71(4): 523-526.
  • Pamuk ON, Mundlos S, Cakir N. Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine. 2008;75(6): 725-727.
  • Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999;36: 177-182.
  • Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. Am J Med Genet. 2001;104(1): 1-6.
  • Lossdörfer S, Abou Jamra B, Rath-Deschner B, Götz W, Abou Jamra R, Braumann B, Jäger A.The role of periodontal ligament cells in delayed tooth eruption in patients with cleidocranial dysostosis. J Orofac Orthop. 2009;70(6): 495-510.
  • Kargul B, Salih IM, Yilmaz L, et al. Cleidocranial dysostosis: report of a case. J Clin Pediatr Dent. 1997;22: 83-86.
  • Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol. 1994;14: 163-176.
  • Yamamoto H, Sakae T, Davies JE. Cleidocranial dysplasia: a light microscope, electron microscope, and crystallographic study. Oral Surg Oral Med Oral Pathol. 1989;68: 195-200.
  • Garg RK, Agrawal P. Clinical spectrum of cleidocranial dysplasia: a case report. Cases J. 2008;1(1): 377.
  • Wang GX, Sun RP, Song FL. A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. Genetics and Molecular Research. 2010;9(1): 41-47.
  • Shen Z, Zou CC, Yang RW, Zhao ZY. Cleidocranial dysplasia: report of 3 cases and literature review. Clin Pediatr. 2009;48: 194-198.
  • Becker A, Lustmann J, Shteyer A. Cleidocranial dysplasia: Part 1-General principles of the orthodontic and surgical treatment modality. Am J Orthod Dentofac Orthop. 1997;111: 28-33.
  • Rushton, M. A. An anomaly of cementum in cleidocranial dysostosis. Br Dent J. 1956;100: 81.
  • Smith, N.H.H. A histologic study of cemetum in a case of cleidocranial dysostosis. Oral Surg. 1968;25: 470.
  • Alves N, Oliveira R. Cleidocranial Dysplasia - A Case Report. Int J Morphol. 2008;26(4): 1065-1068.
  • McNamara CM, O’Riordan BC, Blake M, Sandy JR. Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol. 1999;28(2): 89-97.
  • Mohan RP, Suma GN, Vashishth S, Goel S.Cleidocranial dysplasia: clinico- radiological illustration of a rare case. J Oral Sci. 2010;52(1): 161-166.
  • Bergwitz C, Prochnau A, Mayr B, Kramer FJ, Rittierodt M, Berten HL, Hausamen JE, Brabant G. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. J Inherit Metab Dis. 2001;24: 648-656.
  • Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005;77: 305-312.
  • Sadikovic B, Yoshimoto M, Chilton-MacNeill S, Thorner P, Squire JA, Zielenska M. Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling. Hum Molec Genet. 2009;18: 1962-1975.
  • Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, Shigesada K. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype- phenotype correlations. Am J Hum Genet. 2002;71: 724-738.
  • Becker A. The orthodontic treatment of impacted teeth. London: Martin Dunitz Ltd.; 1998. p. 199-227.
  • Daskalogiannakis J, Piedade L, Lindholm TC, Sándor GK, Carmichael RP. Cleidocranial dysplasia: 2 generations of management. J Can Dent Assoc. 2006;72(4): 337-342.

Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings

Year 2012, Volume: 2 Issue: 2, 84 - 88, 31.01.2014

Abstract

Objectives: The purpose of this study is to present a patient with cleidocranial dysostosis.
Materials and Methods: A 17 year-old male patient with cleidocranial dysostosis referred to Marmara University, Dentistry Faculty, Department of Oral Diagnosis and Radiology with complaints of oligodontia. In the extra-oral physical examination when the patient was asked to move his shoulders, he was capable of bringing closer the humeral heads, which characterized the hipermobility of the shoulders. In the intra-physical examination the atresia of the maxilla, ogival, deep palatum, and a mixed dentition were clear. In order to evaluate the impacted teeth in detail, dental volumetric tomography was taken. In order to confirm clinical and radiological diagnosis of cleidocranial dysostosis, the genetic analysis of the patient was performed. DNA from affected child and his mother was obtained from peripheral blood by using High PCR Template Preparation Kit.
Results: The first two exons of the gene were amplified by using primers. No mutation was found in two sequenced exons.
Conclusion: For patients with compromised esthetics, surgical treatment with orthodontic traction is a convenient and viable alternative. Our treatment plan consisted of periodontal and orthodontic treatments and further prosthodontic rehabilitation was planned in case of need.

References

  • Segal N, Puterman M. Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations. Int J Pediatr Otorhinolaryngol. 2007;71(4): 523-526.
  • Pamuk ON, Mundlos S, Cakir N. Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine. 2008;75(6): 725-727.
  • Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999;36: 177-182.
  • Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. A natural history of cleidocranial dysplasia. Am J Med Genet. 2001;104(1): 1-6.
  • Lossdörfer S, Abou Jamra B, Rath-Deschner B, Götz W, Abou Jamra R, Braumann B, Jäger A.The role of periodontal ligament cells in delayed tooth eruption in patients with cleidocranial dysostosis. J Orofac Orthop. 2009;70(6): 495-510.
  • Kargul B, Salih IM, Yilmaz L, et al. Cleidocranial dysostosis: report of a case. J Clin Pediatr Dent. 1997;22: 83-86.
  • Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol. 1994;14: 163-176.
  • Yamamoto H, Sakae T, Davies JE. Cleidocranial dysplasia: a light microscope, electron microscope, and crystallographic study. Oral Surg Oral Med Oral Pathol. 1989;68: 195-200.
  • Garg RK, Agrawal P. Clinical spectrum of cleidocranial dysplasia: a case report. Cases J. 2008;1(1): 377.
  • Wang GX, Sun RP, Song FL. A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. Genetics and Molecular Research. 2010;9(1): 41-47.
  • Shen Z, Zou CC, Yang RW, Zhao ZY. Cleidocranial dysplasia: report of 3 cases and literature review. Clin Pediatr. 2009;48: 194-198.
  • Becker A, Lustmann J, Shteyer A. Cleidocranial dysplasia: Part 1-General principles of the orthodontic and surgical treatment modality. Am J Orthod Dentofac Orthop. 1997;111: 28-33.
  • Rushton, M. A. An anomaly of cementum in cleidocranial dysostosis. Br Dent J. 1956;100: 81.
  • Smith, N.H.H. A histologic study of cemetum in a case of cleidocranial dysostosis. Oral Surg. 1968;25: 470.
  • Alves N, Oliveira R. Cleidocranial Dysplasia - A Case Report. Int J Morphol. 2008;26(4): 1065-1068.
  • McNamara CM, O’Riordan BC, Blake M, Sandy JR. Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol. 1999;28(2): 89-97.
  • Mohan RP, Suma GN, Vashishth S, Goel S.Cleidocranial dysplasia: clinico- radiological illustration of a rare case. J Oral Sci. 2010;52(1): 161-166.
  • Bergwitz C, Prochnau A, Mayr B, Kramer FJ, Rittierodt M, Berten HL, Hausamen JE, Brabant G. Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia. J Inherit Metab Dis. 2001;24: 648-656.
  • Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005;77: 305-312.
  • Sadikovic B, Yoshimoto M, Chilton-MacNeill S, Thorner P, Squire JA, Zielenska M. Identification of interactive networks of gene expression associated with osteosarcoma oncogenesis by integrated molecular profiling. Hum Molec Genet. 2009;18: 1962-1975.
  • Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, Shigesada K. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype- phenotype correlations. Am J Hum Genet. 2002;71: 724-738.
  • Becker A. The orthodontic treatment of impacted teeth. London: Martin Dunitz Ltd.; 1998. p. 199-227.
  • Daskalogiannakis J, Piedade L, Lindholm TC, Sándor GK, Carmichael RP. Cleidocranial dysplasia: 2 generations of management. J Can Dent Assoc. 2006;72(4): 337-342.
There are 23 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Articles
Authors

Filiz Namdar Pekiner

Mehmet Borahan This is me

Korkut Ulucan This is me

Publication Date January 31, 2014
Submission Date November 17, 2013
Published in Issue Year 2012 Volume: 2 Issue: 2

Cite

APA Namdar Pekiner, F., Borahan, M., & Ulucan, K. (2014). Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings. Clinical and Experimental Health Sciences, 2(2), 84-88.
AMA Namdar Pekiner F, Borahan M, Ulucan K. Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings. Clinical and Experimental Health Sciences. January 2014;2(2):84-88.
Chicago Namdar Pekiner, Filiz, Mehmet Borahan, and Korkut Ulucan. “Cleidocranial Dysplasia: A Case Report With Clinical, Radiographic, and Genetic Findings”. Clinical and Experimental Health Sciences 2, no. 2 (January 2014): 84-88.
EndNote Namdar Pekiner F, Borahan M, Ulucan K (January 1, 2014) Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings. Clinical and Experimental Health Sciences 2 2 84–88.
IEEE F. Namdar Pekiner, M. Borahan, and K. Ulucan, “Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings”, Clinical and Experimental Health Sciences, vol. 2, no. 2, pp. 84–88, 2014.
ISNAD Namdar Pekiner, Filiz et al. “Cleidocranial Dysplasia: A Case Report With Clinical, Radiographic, and Genetic Findings”. Clinical and Experimental Health Sciences 2/2 (January 2014), 84-88.
JAMA Namdar Pekiner F, Borahan M, Ulucan K. Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings. Clinical and Experimental Health Sciences. 2014;2:84–88.
MLA Namdar Pekiner, Filiz et al. “Cleidocranial Dysplasia: A Case Report With Clinical, Radiographic, and Genetic Findings”. Clinical and Experimental Health Sciences, vol. 2, no. 2, 2014, pp. 84-88.
Vancouver Namdar Pekiner F, Borahan M, Ulucan K. Cleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings. Clinical and Experimental Health Sciences. 2014;2(2):84-8.

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