Crouzon Syndrome a Comprehensive Review

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Chrystalla Kyprianou1, Athina Chatzigianni2

1 Dental practice, Thessaloniki, Greece
2 School of Dentistry, Aristotle University of Thessaloniki, Thessaloniki, Greece

Summary

Crouzon syndrome is a rare genetic disorder with autosomal dominant inheritance. The underlying pathological process is premature synostosis of the cranial sutures with subsequent phenotypic alterations of the affected person. A review of the literature has been conducted in order to resume the overall characteristics of Crouzon syndrome such as craniomaxillofacial malformations, clinical features, dentoalveolar characteristics, aesthetic impairments, and psychological background, as well as, the different therapeutic procedures, which combine surgical and orthodontic interventions. Facial and functional malformations in individuals with Crouzon syndrome could be significantly improved after a series of surgical and orthodontic procedures in almost all cases. A multidisciplinary treatment approach would provide the best outcomes in affected patients.

Keywords: Crouzon; Crouzon Syndrome; Diagnosis; Multidisciplinary Approach; Orthodontic Management; Surgical Management

Reference

 

1. Kreiborg S. Crouzon syndrome. Scand J Plast Reconstr Surg, 1981;18:1-198.Google Scholar

 

2. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth receptor 2 gene cause Crouzon syndrome. Nat Genet, 1994;8:98-103.Google Scholar

 

3. Schulz C, Kress W, Schömig A, Wessley R. Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGRF-2) gene. Clin Genet, 2005;72:305-307.Google Scholar

 

4. Chang CP, Wan L, Tsai CH, Lee CC, Tsai FJ. Mutation analysis of Crouzon’s syndrome In Taiwanese patients. J Clin Lab Anal, 2006;20:23-26.Google Scholar

 

5. Eswarakumar VP, Horowitz MC, Locklin R, Morriss- Kay GM, Lonai P. A gain-of function mutation of FGFR2c demonstrates the roles of this receptor variant in osteogenesis. Proc Natl Acad Sci USA, 2004;101:12555-12560.Google Scholar

 

6. Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst, 2012;28:1447-1463.Google Scholar

 

7. Johnson D, Wilkie A O M. Craniosynostosis. Eur J Hum Genet, 2011;19:369-376.CrossrefGoogle Scholar

 

8. Ciurea AV, Toader C. Genetics of craniosynostosis: review of the literature. J Med Life, 2009;2:5-17.Google Scholar

 

9. WarrenSM, FongKD, ChenCM, LoboaEG, CowanCM, LorenzHP et al. The BMP antagonist noggin regulates cranial suture fusion. Nature, 2003;422:625-629.Google Scholar

 

10. Vagervik K, Rubin MS, Grayson BH, Figueroa AA, Kreiborg S, Shirley JC et al. Parameters of care for craniosynostosis: dental and orthodontic perspectives. Am J Orthod Dentofacial Orthop, 2012;141:S68-S73.Google Scholar

 

11. Cunningham ML, Seto ML, Rotisoontorn C, Heike L, Hing AV. Syndromic craniosynostosis: From history to hydrogen bonds. Orthod Craniofac Res, 2007;10:67-81.Google Scholar

 

12. Di Rocco F, Arnaud E, Renier D. Evolution in the frequency of nonsyndromic craniosynostosis. J Neurosurg Pediatr, 2009;4:21-25.Google Scholar

 

13. Tsuji M. Quantitative analysis of characteristic variations of the facial features of Crouzon syndrome. Kokubyop Gakkai Zasshi, 2006;73:125-138.Google Scholar

 

14. Forrest CR, Hopper RA. Craniofacial syndromes and surgery. Plast Reconstr Surg, 2013;131:86e-109e.Google Scholar

 

15. Kabbani H, Raghuveer TS. Craniosynostosis. Am Fam Physician, 2004;69:2863-2870.Google Scholar

 

16. Panchal J, Uttchin V. Management of craniosynostosis. Plast Reconstr Surg, 2003;111:2032-2048.Google Scholar

 

17. Kreiborg S, Cohen MM Jr. Is craniofacial morphology in Apert and Crouzon syndromes the same? Acta Odontol Scand, 1998;56:339-341.Google Scholar

 

18. Reitsma Jh, Ongkosuwito Em, Buschang Ph, Prahlandersen B. Facial growth in patients with apert and crouzon syndromes compared to normal children. Cleft Palate Craniofac J, 2012;49:185-193.Google Scholar

 

19. Reitsma J H, Balk-Leurs I H, Ongkosuwito E M, Wattel E, Prahl-Andersen B. Dental maturation in children with the syndrome of crouzon and apert. Cleft Palate Craniofac J, 2013;51:639-644.Google Scholar

 

20. Reitsma J H, Elmi P, Ongkosuwito E M, Buschang P H, Prahl-Andersen B. A longitudinal study of dental arch morphology in children with the syndrome of Crouzon or Apert. Eur J Oral Sci, 2013;121:319-332.Google Scholar

 

21. Bjerklin K, Kurol J. Ectopic eruption of the maxillary first permanent molar: etiologic factors. Am J Orth, 1983;84:147-155.Google Scholar

 

22. Stavropoulos D, Bartzela T, Tarnow P, Mohlin B, Kahnberg K, Hagberg C. Dental agenesis patterns in Crouzon syndrome. Swed Dent J, 2011;35:195-201.Google Scholar

 

23. Stavropoulos D, Bartzela T, Bronkhorst E, Mohlin b, Hagberg C. Dental agenesis patterns of permanent teeth in Apert syndrome. Eur J Oral Sci, 2011;119:198-203.Google Scholar

 

24. Bowling EL, Burstein FD. Crouzon syndrome. Optometry, 2006;77:217-222.Google Scholar

 

25. Gray TL, Casey T, Selva D, Anderson PJ, David DJ. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology, 2005;112:1129-1134.Google Scholar

 

26. Akram A, McKnight MM, Bellardie H, Beale V, Evans RD. Craniofacial malformations and the orthodontist. Br Dent J, 2015;218:129-141.Google Scholar

 

27. Fearon JA. Halo distraction of the Le Fort III in syndromic craniosynostosis: A long-term assessment. Plast Reconstr Surg, 2005;115:1524.Google Scholar

 

28. Farole A, Mundenar MJ, Braitman LE. Posterior airway changes associated with mandibular advancement surgery: implications for patients with obstructive sleep apnea. Int J Adult Orthodon Orthognath Surg, 1990;5:255-258.Google Scholar

 

29. Cohen MM. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability and new syndrome updating. Birth Defects Orig Artic Ser, 1979;15:13-63.Google Scholar

 

30. Gorlin RJ, Hennekam RCM. Syndromes with craniosynostosis: general aspects and well-known syndromes. In: Gorlin RJ, Cohen MM, Hennekam RCM, eds. Syndromes of the Head and Neck. Oxford, UK: Oxford University Press, Inc.; 2001.Google Scholar

 

31. Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM et al. Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. Pediatr Neurol, 2014;50:482-490.Google Scholar

 

32. Micheletti-Helfer T, Borges-Peixoto A, Tonni G, Araujo JE. Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography. Med Ultrason, 2016;18:378-385.CrossrefGoogle Scholar

 

33. Tonni G, Panteghini M, Rossi A, Baldi M, Magnani C, Ferrari B et al. Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature. Arch Gynecol Obstet, 2011;283:909-916.Google Scholar

 

34. Faro C, Benoit B, Wegrzyn P, Chaoui R, Nicolaides KH. Three-dimensional sonographic description of the fetal frontal bones and metopic suture. Ultrasound Obstet Gynecol, 2005;26:618-621.Google Scholar

 

35. Nørgaard P, Hagen CP, Hove H, Dunoe M, Nissen KR, Kreiborg S et al. Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings. Acta Radiol short reports, 2012;1:1-5.Google Scholar

 

36. Fjørtoft MI, Sevely A, Boetto S, Kessler S, Sarramon MF, Rolland M. Prenatal diagnosis of craniosynostosis: value of MR imaging. Neuroradiology, 2007;49:515-521.Google Scholar

 

37. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol, 2007;14:150-161.Google Scholar

 

38. Prenatal Imaging of Craniosynostosis Syndromes. Ketwaroo PD, Robson CD, Estroff JA. Semin Ultrasound CT MR, 2015;36:453-464.Google Scholar

 

39. Carinci F, Avantaggiato A, Curioni C. Crouzon syndrome: Cephalometric analysis and evaluation of pathogenesis. Cleft Palate Craniofac J, 1994;31:201-209.Google Scholar

 

40. David LR, Velotta E, Weaver RG, Wilson JA, Argenta LC. Clinical findings precede objective diagnostic testing in the identification of increased intracranial pressure in syndromic craniosynostosis. J Craniofac Surgery, 2002;13:67680.Google Scholar

 

41. Hayward R, Jones B, Dunaway D, Evans R (eds). The clinical management of craniosynostosis. Clinics in Developmental Medicine No. 163. London: Mac Keith Press, 2004.Google Scholar

 

42. Evans R D. Highly specialised services. J Orthod, 2013:40:181-182.Google Scholar

 

43. Kahnberg KE, Hagberg C. Orthognathic surgery in patients with craniofacial syndrome. I. A 5-year overview of combined orthodontic and surgical correction. J Plast Surg Hand Surg, 2010;44:282-288.Google Scholar

 

44. Pagnoni M, Fadda MT, Spalice A et al. Surgical timing of craniosynostosis what to do and when. J Cranio-Maxillo- Facial Surg, 2014;42:513-519.CrossrefGoogle Scholar

 

45. Renier D, Sainte-Rose C, Marchac D, Hirsch JF. Intracranial pressure in craniostenosis. J Neurosurg, 1982;57:370-377.CrossrefGoogle Scholar

 

46. Dobbs TD, Wall SA, Richards PG, Johnson D. A novel technique to secure the rigid external distraction (RED) frame in a thin skull allowing sutural mid-face distraction. J CranioMaxillofacial Surg, 2014;42:1048-1051.Google Scholar

 

47. Gosain AK, Santoro TD, Havlik RJ, Cohen SR, Holmes RE. Midface distraction following Le Fort III and monobloc osteotomies: Problems and solutions. Plast Reconstr Surg, 2002;109:1797-1808.Google Scholar

 

48. Sakamoto Y, Nakajima H, Tamada I, Sakamoto T. Le Fort IV+I distraction osteogenesis using an internal device for syndromic craniosynostosis. J Oral Maxillofac Surg, 2014;72:788-795.Google Scholar

 

49. Meling TR, Hogevold HE, Due-Tonnessen BJ, Skjelbred P. Comparison of perioperative morbidity after LeFort III and monobloc distraction osteogenesis. Br J Oral Maxillofac Surg, 2011;49:131-134.Google Scholar

 

50. Fearon JA, Whitaker LA. Complications with facial advancement: a comparison between the Le Fort III and monobloc advancements. Plast Reconstr Surg, 1993;91:990-995.CrossrefGoogle Scholar

 

51. McCarthy JG, Warren SM, Bernstein J, Burnett W, Cunningham ML, Edmond JC et al. Craniosynostosis Working Group. Parameters of care for craniosynostosis. Cleft Palate Craniofac J, 2012;49:1S-24S.Google Scholar

 

52. Lee DW, Ham KW, Kwon SM, Lew DH, Cho EJ. Dual midfacial distraction osteogenesis for Crouzon syndrome: long-term follow-up study for relapse and growth. J Oral Maxillofac Surg, 2012;70:e242-e251.Google Scholar

 

53. Mtihlbauer W, Anderl H, Heeckt P, Schmidt A, Zenker J, Hopner F et al. Early Operation in Craniofacial Dysostosis. World J Surg, 1989;13:366-372.Google Scholar

 

54. Allam KA, Wan DC, Khwanngern K, Kawamoto HK, Tanna N, Perry A et al. Treatment of Apertsyndrome: a long-term follow-up study. Plast Reconstr Surg, 2011;127:1601-1611.Google Scholar

 

55. Helman SN, Badhey A, Kadakia S, Myers E. Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. Oral Maxillofac Surg, 2014;18:373-379.Google Scholar

 

56. Nurko C, Quinones R. Dental and orthodontic management of patients with Apert and Crouzon syndromes. Oral Maxillofac Surg Clin North Am, 2004;16:541-553.Google Scholar

 

57. Kreiborg S. Postnatal growth and development of the craniofacial complex in premature craniosynostosis. In: Cohen MM Jr, MacLean RE, editors. Craniosynostosis: diagnosis, evaluation, and management. 2nd ed. New York: Oxford University Press; 2000. p. 158-174.Google Scholar

 

58. Kreiborg S, Aduss H, Cohen MM Jr. Cephalometric study of the Apert syndrome in adolescence and adulthood. J Craniofac Genet Dev Biol, 1999;19:1-11.Google Scholar

 

59. Welch TB. Stability in the correction of dentofacial deformities:a comprehensive review. J OraL Maxillofac Surg, 1989;47:1142-1149.Google Scholar

 

60. Múfalo PS, Kaizer R de OR, Dalben G de S, de Almeida ALPF. Comparison of periodontal parameters in individuals with syndromic craniosynostosis. J Appl Oral Sci, 2009;17:13-20.CrossrefGoogle Scholar

 

61. Pawlicki R, Knychalska-Karwan Z, Darczuk D, Nowak T. Crouzon’s syndrome: tooth morphological and microanalytical evaluation. Eur Arch Paediatr Dent, 2008;9:232-235.CrossrefGoogle Scholar

 

62. Dalben Gda S, Costa B, Gomide MR. Oral health status of children with syndromic craniosynostosis. Oral Health Prev Dent, 2006;4:173-179.Google Scholar

Balkan Journal of Dental Medicine, Volume 22, Issue 1, Pages 1–6, ISSN (Online) 2335-0245,DOI: https://doi.org/10.2478/bjdm-2018-0001

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