Abstract
Treacher Collins syndrome (TCS), frequently referred to as mandibulofacial dysostosis, is a disorder of craniofacial development and involves craniofacial structures derived from the first and second branchial arches. Those with TCS present with occlusal/skeletal disharmony in transverse, sagittal, and vertical dimensions and require care from multidisciplinary team comprising of orthodontists, pedodontists, craniofacial surgeons, and oral and maxillofacial surgeons. Some of the pathognomonic findings include anterior open bite, Class II skeletal pattern, high mandibular plane angle, and downward-slanting palpebral fissures. In this chapter, we describe typical occlusal/facial features of those with TCS, present a timeline of key orthodontic interventions, and provide an overview of principles of orthodontic management of TCS. Specifically, we provide details on different types of maxillary expansion, limited orthodontic treatment, and preparation for orthognathic surgery. Those with TCS are extremely challenging to treat. However, with a good team approach, excellent clinical outcomes can be realized.
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References
OMIM (# 154500). TREACHER COLLINS SYNDROME 1; TCS1. WWW link is https://omim.org/entry/154500. Date of access is 08/30/2020.
OMIM (# 613717). TREACHER COLLINS SYNDROME 2; TCS2. WWW link is https://omim.org/entry/613717. Date of access is 08/30/2020.
OMIM (# 248390). TREACHER COLLINS SYNDROME 3; TCS3. WWW link is https://omim.org/entry/248390. Date of access is 08/30/2020.
OMIM (# 618939). TREACHER COLLINS SYNDROME 4; TCS4. WWW link is https://omim.org/entry/618390. Date of access is 08/30/2020.
Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM. The Hutterite variant of Treacher Collins syndrome: a 28-year-old story solved. Am J Med Genet A. 2013;161A(11):2855–9. https://doi.org/10.1002/ajmg.a.36172.
Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, et al. Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins syndrome and mechanism of mutagenesis. Am J Med Genet A. 2005;134:363–7.
Dahl E, Kreiborg S, Björk A. A morphologic description of a dry skull with mandibulofacial dysostosis. Scand J Dent Res. 1975;83(5):257–66. https://doi.org/10.1111/j.1600-0722.1975.tb00435.x.
Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher Collins syndrome. Cleft Palate Craniofac J. 1991;28(2):226–31. https://doi.org/10.1597/1545-1569_1991_028_0226_cmitcs_2.3.co_2.
Behrents RG, McNamara JA, Avery JK. Prenatal mandibulofacial dysostosis (Treacher Collins syndrome). Cleft Palate J. 1977;14(1):13–34.
Posnick JC, Tiwana PS, Costello BJ. Treacher Collins syndrome: comprehensive evaluation and treatment. Oral Maxillofac Surg Clin North Am. 2004;16(4):503–23. https://doi.org/10.1016/j.coms.2004.08.002.
Hylton JB, Leon-Salazar V, Anderson GC, De Felippe NL. Multidisciplinary treatment approach in Treacher Collins syndrome. J Dent Child (Chic). 2012;79(1):15–21.
Martelli-Junior H, Coletta RD, Miranda RT, Barros LM, Swerts MS, Bonan PR. Orofacial features of Treacher Collins syndrome. Med Oral Patol Oral Cir Bucal. 2009;14(7):E344-8. Published 2009 Jul 1.
Marszałek B, Wójcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43(2):223–33.
Bartzela TN, Carels C, Maltha JC. Update on 13 Syndromes Affecting Craniofacial and Dental Structures. Front Physiol. 2017;8:1038. Published 2017. https://doi.org/10.3389/fphys.2017.01038.
Teber OA, Gillessen-Kaesbach G, Fischer S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12(11):879–90. https://doi.org/10.1038/sj.ejhg.5201260.
Magalhães MH, da Silveira CB, Moreira CR, Cavalcanti MG. Clinical and imaging correlations of Treacher Collins syndrome: report of two cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103(6):836–42. https://doi.org/10.1016/j.tripleo.2006.04.011.
Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher Collins syndrome. Cleft Palate Craniofac J. 1991;28(2):226–31. https://doi.org/10.1597/1545-1569_1991_028_0226_cmitcs_2.3.co_2.
Shete P, Tupkari J, Benjamin T, Singh A. Treacher Collins syndrome. J Oral Maxillofac Pathol. 2011;15(3):348–51. https://doi.org/10.4103/0973-029X.86722.
Esenlik E, Plana NM, Grayson BH, Flores RL. Cephalometric predictors of clinical severity in Treacher Collins syndrome. Plast Reconstr Surg. 2017;140(6):1240–9. https://doi.org/10.1097/PRS.0000000000003853.
Allareddy V, Bruun R, MacLaine J, Markiewicz MR, Ruiz R, Miller MA. Orthodontic preparation for secondary alveolar bone grafting in patients with complete cleft lip and palate. Oral Maxillofac Surg Clin North Am. 2020;32(2):205–17. https://doi.org/10.1016/j.coms.2020.01.003.
Cobb AR, Green B, Gill D, et al. The surgical management of Treacher Collins syndrome. Br J Oral Maxillofac Surg. 2014;52(7):581–9. https://doi.org/10.1016/j.bjoms.2014.02.007.
Lee KJ, Park YC, Park JY, Hwang WS. Miniscrew-assisted nonsurgical palatal expansion before orthognathic surgery for a patient with severe mandibular prognathism. Am J Orthod Dentofac Orthop. 2010;137(6):830–9. https://doi.org/10.1016/j.ajodo.2007.10.065.
Lee RJ, Moon W, Hong C. Effects of monocortical and bicortical mini-implant anchorage on bone-borne palatal expansion using finite element analysis. Am J Orthod Dentofac Orthop. 2017;151(5):887–97. https://doi.org/10.1016/j.ajodo.2016.10.025.
Chung JY, Cangialosi TJ, Eisig SB. Treacher Collins syndrome: a case study. Am J Orthod Dentofac Orthop. 2014;146(5):665–72. https://doi.org/10.1016/j.ajodo.2014.06.019.
Proffit WR, Phillips C, Turvey TA. Stability after mandibular setback: mandible-only versus 2-jaw surgery. J Oral Maxillofac Surg. 2012;70:e408–14.
Hernandez-Alfaro F, Guijarro-Martinez R, Piero-Guijarro MA. Surgery first in orthognathic surgery: what have we learned? A comprehensive workflow based on 45 consecutive cases. J Oral Maxillofac Surg. 2014;72:376–90.
Proffit WR, White RP Jr. Contemporary treatment of Dentofacial deformity. St. Louis: Mosby; 2003.
Elnagar MH, Aronovich S, Kusnoto B. Digital workflow for combined orthodontics and Orthognathic surgery. Oral Maxillofac Surg Clin North Am. 2020;32(1):1–14. https://doi.org/10.1016/j.coms.2019.08.004.
Tessier P, Tulasne JF. Stability in correction of hypertelorbitism and Treacher Collins syndromes. Clin Plast Surg. 1989;16(1):195–204.
Gürsoy S, Hukki J, Hurmerinta K. Five year follow-up of mandibular distraction osteogenesis on the dentofacial structures of syndromic children. Orthod Craniofac Res. 2008;11(1):57–64. https://doi.org/10.1111/j.1601-6343.2008.00415.x.
Nguyen PD, Caro MC, Smith DM, Tompson B, Forrest CR, Phillips JH. Long-term orthognathic surgical outcomes in Treacher Collins patients. J Plast Reconstr Aesthet Surg. 2016;69(3):402–8. https://doi.org/10.1016/j.bjps.2015.10.036.
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Allareddy, V., Maclaine, J., Elnagar, M.H. (2022). Principles of Orthodontic Management of Treacher Collins Syndrome. In: Yates, D.M., Markiewicz, M.R. (eds) Craniofacial Microsomia and Treacher Collins Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-84733-3_22
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