Maxillofacial 3D Imaging in Cleidocranial Dysplasia: A Case Report and Literature Review

Document Type : Case Report

Authors

Department of Oral Medicine and Radiology, A B Shetty Memorial Institute of Dental Sciences (ABSMIDS), Nitte deemed to be University, Mangalore, India

Abstract

Cleidocranial dysplasia (CCD) is an inherited autosomal dominant disorder affecting the skeletal and craniofacial structures, exhibiting distinct maxillofacial abnormalities. A case of CCD in an adolescent girl who presented with significant maxillofacial abnormalities is reported in this study. She had a total of 58 teeth including the retained deciduous, impacted, and unerupted teeth. The role of radiography in the diagnosis and treatment planning of CCD is inevitable. In our case, the application of cone-beam computed tomography aided in effective treatment planning which included surgical and orthodontic interventions for the management of the maxillofacial abnormalities. Gene testing was done for the patient and the diagnosis of CCD was confirmed. A dental surgeon can be the first person to diagnose the disease because of its striking craniofacial features and associated dental problems. Hence, adequate knowledge about the maxillofacial abnormalities of CCD among dental and maxillofacial surgeons is necessary to aid in an early diagnosis and better aesthetic outcome.

Keywords


  1. Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, et al. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005; 77(2):305-12. doi: 10.1086/432261.
  2. Manjunath K, Kavitha B, Saraswathi TR, Sivapathasundharam B, Manikandhan R. Cementum analysis in cleidocranial dysostosis. Indian J Dent Res. 2008; 19(3):253-6. doi: 10.4103/0970-9290.42960.
  3. Nagarathna C, Shakuntala BS, Mathew S, Krishnamurthy NH, Yumkham R. Cleidocranial dysplasia presenting with retained deciduous teeth in a 15-year-old girl: A case report. J Med Case Rep. 2012; 6:25. doi: 10.1186/1752-1947-6-25.
  4. Paul SA, Simon SS, Karthik AK, Chacko RK, Savitha S. A review of clinical and radiological features of cleidocranial dysplasia with a report of two cases and a dental treatment protocol. J Pharm Bioallied Sci. 2015; 7(Suppl 2): S428-32. doi: 10.4103/0975-7406.163490.
  5. Patil PP, Barpande SR, Bhavthankar JD, Humbe JG. Cleidocranial dysplasia: A clinico-radiographic spectrum with differential diagnosis. J Orthop Case Rep. 2015; 5(2):21-4. doi: 10.13107/jocr.2250-0685.264.
  6. Romeo U, Galluccio G, Palaia G, Tenore G, Carpenteri F, Barbato E, et al. Cleidocranial dysplasia: Maxillary alterations on the transverse plane. Presence of crown-radicular anomalies and multidisciplinary approach of a clinical case. Oral Health Dent Manag. 2014; 13(2):529-35. PMID: 24984677.
  7. Chitayat D, Hodgkinson KA, Azouz EM. Intrafamilial variability in cleidocranial dysplasia: A three generation family. Am J Med Genet. 1992; 42(3):298-303. doi: 10.1002/ajmg.1320420307.
  8. Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, et al. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet. 1999; 65(5):1268-78. doi: 10.1086/302622.
  9. Pan CY, Tseng YC, Lan TH, Chang HP. Craniofacial features of cleidocranial dysplasia. J Dent Sci. 2017; 12(4):313-8. doi: 10.1016/j.jds.2017.07.002.
  10. Garg RK, Agrawal P. Clinical spectrum of cleidocranial dysplasia: A case report. Cases J. 2008; 1(1):377. doi: 10.1186/1757-1626-1-377.
  11. McNamara CM, O'Riordan BC, Blake M, Sandy JR. Cleidocranial dysplasia: Radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol. 1999; 28(2):89-97. doi: 10.1038/sj/dmfr/4600417.
  12. Lotlikar PP, Creanga AG, Singer SR. Clinical and radiological findings in a severe case of cleidocranial dysplasia. BMJ Case Rep. 2018; 2018: bcr2018226671. doi: 10.1136/bcr-2018-226671.
  13. Suri L, Gagari E, Vastardis H. Delayed tooth eruption: Pathogenesis, diagnosis, and treatment. A literature review. Am J Orthod Dentofacial Orthop. 2004; 126(4):432-45. doi: 10.1016/j.ajodo.2003.10.031.
  14. Kreiborg S, Jensen BL. Tooth formation and eruption - lessons learnt from cleidocranial dysplasia. Eur J Oral Sci. 2018; 126‌(Suppl 1):72-80. doi: 10.1111/eos.12418.
  15. Vij R, Batra P, Vij H. Cleidocranial dysplasia: Complete clinical, radiological and histological profiles. BMJ Case Rep. 2013; 2013: bcr2013009015. doi: 10.1136/bcr-2013-009015.
  16. Kulczyk T, Przystańska A, Rewekant A, Turska Malińska R, Czajka Jakubowska A. Maxillary sinuses and midface in patients with cleidocranial dysostosis. Ann Anat. 2018; 215:78-82. doi: 10.1016/j.aanat.2017.08.002.
  17. Dixit R, Dixit K, Paramez AR. Cleidocranial dysplasia. Lung India. 2010; 27(3):176-7. doi: 10.4103/0970-2113.68322.
  18. El Gharbawy AH, Peeden JN Jr, Lachman RS, Graham JM Jr, Moore SR, Rimoin DL. Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. Am J Med Genet A. 2010;
    152 (1):169-74. doi: 10.1002/ajmg.a.33146.
  19. Becker A, Lustmann J, Shteyer A. Cleidocranial dysplasia: Part 1--General principles of the orthodontic and surgical treatment modality. Am J Orthod Dentofacial Orthop. 1997; 111(1):28-33. doi: 10.1016/s0889-5406(97)70298-1.
  20. Jirapinyo C, Deraje V, Huang G, Gue S, Anderson PJ, Moore MH. Cleidocranial dysplasia: Management of the multiple craniofacial and skeletal anomalies. J Craniofac Surg. 2020; 31(4):908-11. doi: 10.1097/SCS.0000000000006306.