Volume 7, Issue 1 (1-2019)                   J. Pediatr. Rev 2019, 7(1): 45-54 | Back to browse issues page

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Khodadadi E, Dehghan Z. Treacher Collins Syndrome: A Case Report and Review of Literature . J. Pediatr. Rev. 2019; 7 (1) :45-54
URL: http://jpr.mazums.ac.ir/article-1-169-en.html
1- Department of Pedodontics, School of Dentistry, Babol University of Medical Sciences, Babol, Iran.
2- Department of Dentistry, School of Dentistry, Babol University of Medical Sciences, Babol, Iran. , z.dehghan85@gmail.com
Abstract:   (1540 Views)
Introduction: Treacher Collins Syndrome (TCS) is an inherited and rare, autosomal dominant condition of craniofacial malformation with varying degrees of penetrance and expression that has been described extensively in the scientific literature with more than 250 cases reported. We presented a 7-year-old boy with TCS. The etiology, clinical features, differential diagnosis and treatment planning have been discussed. In addition, we also reviewed 10 varied cases of TCS.
Case Presentation: Syndromic appearance of abnormal orbits, eyes, ear, and facial bones, along with normal physical and dental development and intelligence quotient were observed in a 7-year old boy referred to the Pediatric Department of Babol Dental School. The patient had no family history of any syndrome, and after reviewing his complete medical records and diagnosing oral and dental problems, the treatment plan was devised. Due to the high risk of caries in the patient, he was followed up every three months.
Conclusions: Early detection, treatment and particular attention to every case of TCS can reduce disease symptoms. Psychological consultation can improve the quality of life for these patients.
Full-Text [PDF 927 kb]   (598 Downloads) |   |   Full-Text (HTML)  (687 Views)  
Type of Study: Case & Review |
Received: 2017/12/31 | Accepted: 2018/03/3 | Published: 2019/01/1

1. Argenta LC, Iacobucci JJ. Treacher Collins syndrome: Present concepts of the disorder and their surgical correction. World Journal of Surgery. 1989; 13(4):401-09. [DOI:10.1007/BF01660753] [DOI:10.1007/BF01660753]
2. Da Silva Dalben G, Casta B, Gomide MR. Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome. Oral Surgery, Oral Medicine, Oral Pathology, and Oral Radiology. 2006; 101(5):588-92. [PMID] [DOI:10.1016/j.tripleo.2005.07.016] [DOI:10.1016/j.tripleo.2005.07.016]
3. Dinlen N, Zenciroglu A, Dilli D, Aydin D, Beken S et al. Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: Case report. Genetic Counseling. 2014; 25(1):7-11. [PMID] [PMID]
4. Renju R, Varma BR, Kumar SJ, Kumaran P. Mandibulofacial dysostosis (Treacher Collins syndrome) : A case report and review of literature. Contemporary Clinical Dentistry. 2014; 5(4):532-4. [PMCID] [DOI:10.4103/0976-237X.142826] [DOI:10.4103/0976-237X.142826]
5. Posnick JC, Ruiz RL. Treacher Collins syndrome: Current evaluation, treatment, and future directions. The Cleft Palate-Craniofacial Journal. 2000; 37(5):434. [DOI:10.1597/1545-1569(2000)0372.0.CO;2] https://doi.org/10.1597/1545-1569(2000)037<0434:TCSCET>2.0.CO;2 [DOI:10.1597/1545-1569(2000)0372.0.CO;2]
6. Dixon J, Edvards SJ, Gladwin AJ, Dixon MJ, Loftus SK, Bonner CA et al. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genetics. 1996; 12(2):130-6. [DOI:10.1038/ng0296-130] [DOI:10.1038/ng0296-130]
7. Edwards SJ , Fowlie A , Cust MP , Liu DT , Young ID , Dixon MJ. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. Journal of Medical Genetics 1996; 33(7):603-6. [DOI:10.1136/jmg.33.7.603] [DOI:10.1136/jmg.33.7.603]
8. Splendore A , Jabs EW, Felix TM , Passos- Bueno R M. Parental origin of mutations in sporadic cases of Treacher Collins syndrome. European Journal of Human Genetics 2003; 11(9):718-22. [DOI:10.1038/sj.ejhg.5201029] [DOI:10.1038/sj.ejhg.5201029]
9. Katsanis SH, Jabs EW. Treacher Collins syndrome [Internet]. 2012 [Updated 2012 August 30]. available from: https://www.ncbi.nlm.nih.gov/books/NBK1532/
10. Posnick J C. Treacher Collins syndrome: Perspectives in evaluation and treatment. Journal of Oral and Maxillofacial Surgery 1997; 55(10):1120–33. [DOI:10.1016/S0278-2391(97)90294-9] [DOI:10.1016/S0278-2391(97)90294-9]
11. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. European Journal of Human Genetics 2009; 17(3):275-83. [DOI:10.1038/ejhg.2008.221] [DOI:10.1038/ejhg.2008.221]
12. Hertle RW, Ziylan S, Katowitz JA. Ophthalmic features and visual prognosis in the Treacher-Collins syndrome. British Journal of Ophthalmology 1993; 77(10):642-5. [DOI:10.1136/bjo.77.10.642] [DOI:10.1136/bjo.77.10.642]
13. Masotti C , Ornelas C C , Splendore-Gordonos A , Moura R , Félix TM , Alonso N , et al. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. BMC Medical Genetics 2009; 10(1):136. [DOI:10.1186/1471-2350-10-136] [DOI:10.1186/1471-2350-10-136]
14. Marszałek B, Wójcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. Journal of Applied Genetics. 2002; 43(2):223-33. [PMID] [PMID]
15. Vento AR, LaBrie RA, Mulliken JB. The O.M.E.N.S classification of hemifacial microsomia. The Cleft Palate-Craniofacial Journal. 1991; 28(1):68-77. [DOI: 10.1597/1545-1569(1991)028<0068:tomens>2.3.co;2] https://doi.org/10.1597/1545-1569(1991)028<0068:TOMENS>2.3.CO;2 [DOI:10.1597/1545-1569(1991)0282.3.CO;2]
16. Kasat VO, Baldawa R. Treacher Collins syndrome – A case report and review of literature. Journal of Clinical and Experimental Dentistry. 2011; 3:395-9. [DOI:10.4317/jced.3.e395] [DOI:10.4317/jced.3.e395]
17. Dixon MJ. Treacher Collins syndrome. Journal of Medical Genetics 1995; 32(10):806-8. [DOI:10.1136/jmg.32.10.806] [DOI:10.1136/jmg.32.10.806]
18. shapira J, Gleicher H, Moskovitz, Peretz B. Respiratory arrest in Treacher-collins syndrome: Implications for dental management: Case report. American Academy of Pediatric Dentistry. 1996; 18(3):242-4. [PMID]
19. Andrade E C, Júnior VS , Didoni ALS, Freitas P Z, Carneiro AF, Yoshimoto FR. Treacher Collins syndrome with choanal atresia: a case report and review of disease features. Rev. Bras. Otorrinolaringol. 2005; 71(1):107-10. [DOI:10.1016/S1808-8694(15)31296-9] [DOI:10.1016/S1808-8694(15)31296-9]
20. Kothari P. Treacher Collins Syndrome: A case report. WebmedCentral DENTISTRY. 2012; 3(1):WMC002902. [DOI: 10.9754/journal.wmc.2012.002902] [DOI:10.9754/journal.wmc.2012.002902]
21. Mohan RPS, Verma S, Agarwal N,Singh U. Treacher Collins syndrome: A case report. BMJ Case Reports. 2013. [DOI:10.1136/bcr-2013-009341] [DOI:10.1136/bcr-2013-009341]
22. Reena Sharma, Brahmadeo Sharma, Meenu Babber, Sonali Singh, Gunjan Jain. Treacher Collins syndrome: A case report and review of ophthalmic features. Taiwan Journal of Ophthalmology. 2016; 6(4):206-9. [DOI:10.1016/j.tjo.2016.07.002] [DOI:10.1016/j.tjo.2016.07.002]
23. Gopal S, Kshatri JKS, Ramesh K. Treacher Collin Syndrome: A Clinical Case Report. International Journal of Research 2016; 8(5):31814-7.
24. Panta P, Yaga US, Mengji A K, Radhika B, Swetha Rao M. Treacher Collins Syndrome - Case Report and Review. Oral Health and Dental Management. 2017; 16(1):1-3.
25. Goel L, Bennur SK, Jambhale S . Treacher Collins Syndrome-A Challenge For Aaesthesiologists. Indian Journal of Anaesthesia. 2009; 53(4):496-500. [PMCID] [PMID] [PMCID]
26. Evans AK , Rahbar R , Rogers GF , Mulliken JB , Volk MS. Robin sequence: A retrospective review of 115 patients. International Journal of Pediatric Otorhinolaryngology 2006; 70(6):973-80. [DOI:10.1016/j.ijporl.2005.10.016] [DOI:10.1016/j.ijporl.2005.10.016]

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