Cleidocranial dysplasia: Etiology, clinicoradiological presentation and management

Abstract

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal change. Cleidocranial dysplasia is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2 (RUNX2). Individuals with CCD should be followed by either a team of specialist or by individual specialist familiar with the problems that can be associated with this condition.

Keywords

• Cledio-cranial dysplasia, supernumerary teeth, diagnosis

Kleidokranial displazi: Etiyoloji, klinikoradyolojik görüntüleme ve tedavi

Öz

Kleidokranial displazi anormal klavikula, genişlemiş suturlar ve fontaneller, süpernumeral dişler, kısa boy ve diger bir çok iskeletsel değişiklikle karakterize otozomal dominant iskeletsel displazidir. Kleidokranial displazi, gen 6p21 genindeki şifreleme çevirme faktörü CBFA1 ve runt-related transcription factor 2 (RUNX2) de meydana gelen mutasyonlardan kaynaklanır. Kleidokranial displazi tek başına bir uzman ekibi tarafından izlenmeli veya sorunları bilen bir uzman tarafından takip edilmelidir.

Anahtar Kelimeler

• Kledio-kranial displazi, artı dişler, tanı

References

1. REFERENCES
2. Golan I, Baumert U, Wagener H, et al. Craniofac Res 2002; 5 (4): 243-9.
3. Martin S. Sur underpacement natural de la clavicle. J Med Chir Pharmacol 1765; 23(3): 456.
4. Marie P, Sainton P. Sur La dysostose cleidocranienne hereditaire. Rev Neurol 1898;6: 835.
5. Garg RK, Agrawal P. Clinical spectrum of cleidocranial dysplasia: a case report. Cases J 2008;1 (1):377.
6. Chelvan HT, Malathi N, Kailasam V, Ponnudurai A. Cleidocranial dysplasia: a family report. J Indian Soc Pedod Prev Dent 2009; 27 (4):249-52.
7. 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.
8. Gulati S, Kabra M. Cleidocranial dysplasia. J Postgrad Med 2001; 47(3):204-5.

9. Mundlos S: Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999; 36 (3):177-82.
10. Currall V, Clancy R, Diamond D. Cleidocranial dysplasia. Curr Orthop 2007; 21 (2):159-62.
11. Jarvis JL, Keats TE. Cleidocranial dysostosis. A review of 40 new cases. Am J Roentgenol Radium Ther Nucl Med 1974; 121 (1):5-16.
12. Keats TE: Cleidocranial dysostosis: some atypical roentgen manifestations. Am J Roentgenol Radium Ther Nucl Med 1967; 100 (1):71-4.
13. Counts AL, Rohrer MD, Prasad H, Bolen P. An assessment of root cementum in cleidocranial dysplasia. Angle Orthod 2001; 71(4):293-8.
14. Yamamoto H, Sakae T, Davies JE. Cleidocranial dysplasia: a light microscope, electron microscope, and crystallographic study. Oral Surg Oral Med Oral Pathol 1989; 68 (2):195-200.
15. Becker A, Bimstein E, Shteyer A. Interdisciplinary treatment of multiple unerupted supernumerary teeth. Report of a case. Am J Orthod 1982; 81 (5):417-22.
16. Dore DD, MacEwen GD, Boulos MI. Cleidocranial dysostosis and syringomyelia. Review of the literature and case report. Clin Orthop Relat Res 1987; (214):229-34.
17. Nebgen D, Wood RS, Shapiro RD. Management of a mandibular fracture in a patient with cleidocranial dysplasia: report of a case and review of the literature. J Oral Maxillofac Surg 1991; 49 (4):405-9.
18. McNamara CM, O’Riordan BC, Blake M, Sandy JR. Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac Radiol 1999; 28(2):89-97.
19. Mohan RP, Suma GN, Vashishth S, Goel S. Cleidocranial dysplasia: clinico-radiological illustration of a rare case. J Oral Sci 2010, 52 (1):161-6.
20. Tanaka JL, Ono E, Filho EM, Castilho JC, Moraes LC, Moraes ME. Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition. J Oral Sci 2006; 48 (3):161-6.
21. Dixit R, Dixit K, Paramez AR. Cleidocranial dysplasia. Lung India 2010; 27 (3):176-7.
22. Goto T, Aramaki M, Yoshihashi H, et al. Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenit Anom (Kyoto) 2004: 44(4):225-9.
23. Becker A. The orthodontic treatment of impacted teeth. London: Martin Dunitz Ltd; 1998;229-323.
24. Winter G. Dental conditions in cleidocranial dysostosis. Am J Orthod Oral Surg 1943; 29 (2):61-89.
25. Pusey RF, Durie JF. A case of cleidocranial dysostosis showing failure of eruption of teeth. Br Dent J 1943; 75 (1):11-3.
26. Sato K, Sugawara J, Mitani H, Kawamura H. Use of selectively colored stereolithography for diagnosis of impacted supernumerary teeth for a patient with cleidocranial dysplasia. Int J Adult Orthodon Orthognath Surg 1998; 13(2):163-7.
27. Davies TM, Lewis DH, Gillbe GV. The surgical and orthodontic management of unerupted teeth in cleidocranial dysostosis. Br J Orthod 1987;14(1):43-7.
28. Butterworth C. Cleidocranial dysplasia: modern concepts of treatment and a report of an orthodontic resistant case requiring a restorative solution. Dent Update 1999; 26(10):458-62.
29. Gonzalez Lopez BS, Ortiz Solalinde C, Kubodera Ito T, Lara Carrillo E, Ortiz Solalinde E. Cleido cranial dysplasia: report of a family. J Oral Sci 2004; 46 (4):259-66.
30. Maw RB. Cleidocranial dysostosis: report of case. J Am Dent Assoc 1978; 96 (2):306-9.
31. Pradhuman V, Kanika GV, Som DG: Cleidocranial dysplasia: a dilemma in diagnosis? Arch Orofac Sci 2010; 5(2):61-4.