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Treacher Collins Sendromu’nda Dentofasiyal Bulgular ve Tedavi Yaklaşımı

Year 2019, Volume: 9 Issue: 2, 213 - 217, 28.06.2019
https://doi.org/10.31832/smj.532801

Abstract

Treacher Collins Sendromu (TCS); kafatası
ve yüzdeki bozukluklar ile karakterize genetik bir rahatsızlıktır. Bu sendroma
sahip hastaların ağız içi bulguları; açık kapanış, çapraşıklık, diş agenezi,
mine opasiteleri, ektopik erüpsiyonlar, büyük dişler ve periodontal problemler olarak
literatürde rapor edilmektedir. TCS’li hastaların tedavisinde erken teşhisle
birlikte çocuk diş hekimi ve ortodontistin değerlendirdiği multidisipliner bir
yaklaşım gerekmektedir. Bu derlemede; TCS’nin genetik ve sitogenetik
özellikleri ile sistemik ve dental tedavi ihtiyaçları ele alınmıştır.

References

  • Referans1. Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. The international journal of biochemistry & cell biology. 2009;41(6):1229-32.
  • Referans2. 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. American Journal of Medical Genetics Part A. 2005;134(4):363-7.
  • Referans3. Fazen LE, Elmore J, Nadler HL. Mandibulo-Facial Dysostosis:(Treacher-Collins Syndrome). American Journal of Diseases of Children. 1967;113(4):405-10.
  • Referans4. Rovin S, Dachi SF, Borenstein DB, Cotter WB. Mandibulofacial dysostosis, a familial study of five generations. The Journal of pediatrics. 1964;65(2):215-21.
  • Referans5. Dixon M, Marres H, Edwards S, Dixon J, Cremers C. Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clinical dysmorphology. 1994;3(2):96-103.
  • Referans6. Marres HA, Cremers W, Dixon MJ, Huygen PL, Joosten FB. The Treacher Collins syndrome: a clinical, radiological, and genetic linkage study on two pedigrees. Archives of Otolaryngology–Head & Neck Surgery. 1995;121(5):509-14.
  • Referans7. Splendore A, Silva EO, Alonso LG, Richieri‐Costa A, Alonso N, Rosa A, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Human mutation. 2000;16(4):315-22.
  • Referans8. Teber ÖA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. European journal of human genetics. 2004;12(11):879.
  • Referans9. Bowman M, Oldridge M, Archer C, O'rourke A, McParland J, Brekelmans R, et al. Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome. European Journal of Human Genetics. 2012;20(7):769.
  • Referans10. Katsanis SH, Jabs E. Treacher collins syndrome. GeneReviews1993.
  • Referans11. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nature genetics. 2011;43(1):20.
  • Referans12. Group TTCSC, Dixon J, Edwards SJ, Gladwin AJ, Dixon MJ, Loftus SK, et al. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature genetics. 1996;12(2):130.
  • Referans13. Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. American journal of human genetics. 1997;60(3):515.
  • Referans14. So RB, Gonzales B, Henning D, Dixon J, Dixon MJ, Valdez BC. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene. 2004;328:49-57.
  • Referans15. Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey J-P, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nature medicine. 2008;14(2):125.
  • Referans16. van Gijn DR, Tucker AS, Cobourne MT. Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. British Journal of Oral and Maxillofacial Surgery. 2013;51(5):384-8.
  • Referans17. Su P-H, Chen J-Y, Chen S-J, Yu J-S. Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. Journal of the Formosan Medical Association. 2006;105(6):518-21.
  • Referans18. Poswillo D. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). British Journal of Oral Surgery. 1975;13(1):1-26.
  • Referans19. Plomp RG, Versnel SL, van Lieshout MJ, Poublon RM, Mathijssen IM. Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome. Journal of Plastic, Reconstructive & Aesthetic Surgery. 2013;66(8):e217-e26.
  • Referans20. Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher Collins syndrome. The Cleft Palate-Craniofacial Journal. 1991;28(2):226-31.
  • Referans21. Kobus K, Wójcicki P. Surgical treatment of Treacher Collins syndrome. Annals of plastic surgery. 2006;56(5):549-54.
  • Referans22. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. European Journal of human genetics. 2009;17(3):275.
  • Referans23. Kay ED, Kay CN, Opitz JM, Reynolds JF. Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis. American journal of medical genetics. 1989;32(1):27-31.
  • Referans24. Magalhães MH, da Silveira CB, Moreira CR, Cavalcanti MGP. Clinical and imaging correlations of Treacher Collins syndrome: report of two cases. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2007;103(6):836-42.
  • Referans25. Colmenero C, Esteban R, Albarino AR, Colmenero B. Sleep apnoea syndrome associated with maxillofacial abnormalities. The Journal of Laryngology & Otology. 1991;105(2):94-100.
  • Referans26. Shapira J, Gleicher H, Moskovitz M, Peretz B. Respiratory arrest in Treacher Collins syndrome: implications for dental management: case report. Pediatr Dent. 1996;18(3):242-4.
  • Referans27. Chong DK, Murray DJ, Britto JA, Tompson B, Forrest CR, Phillips JH. A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome. Plastic and reconstructive surgery. 2008;121(3):77e-84e.
  • Referans28. Miller JJ, Schendel SA. Invited discussion: Surgical treatment of Treacher Collins syndrome. Ann Plast Surg. 2006;56(5):555-6.
  • Referans29. Chigurupati R. Orthognathic surgery for secondary cleft and craniofacial deformities. Oral and Maxillofacial Surgery Clinics. 2005;17(4):503-17.
  • Referans30. Caccamese JF, Ruiz RL, Costello BJ. Costochondral rib grafting. Atlas of the oral and maxillofacial surgery clinics of North America. 2005;13(2):139-49.
  • Referans31. da Silva Dalben G, Costa 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, Oral Radiology, and Endodontology. 2006;101(5):588-92.
  • Referans32. Murdoch-Kinch C. Developmental disturbances of the face and jaws. Oral radiology: principles and interpretation. 2009:562-77.
  • Referans33. Roberts F, Pruzansky S, Aduss H. An x-radiocephalometric study of mandibulofacial dysostosis in man. Archives of oral biology. 1975;20(4):IN5.
  • Referans34. Prahl-Andersen B. Dental treatment of predental and infant patients with clefts and craniofacial anomalies. The Cleft palate-craniofacial journal. 2000;37(6):528-32.
  • Referans35. Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. The Cleft palate-craniofacial journal. 2000;37(5):1-22.
  • Referans36. de Oliveira Lira Ortega A, Liarte Figueiredo Zwir LM, Ciamponi AL, Guimarães AS, Alonso LG. Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case report. The Cleft Palate-Craniofacial Journal. 2007;44(6):678-82.
  • Referans37. Cobb AR, Green B, Gill D, Ayliffe P, Lloyd TW, Bulstrode N, et al. The surgical management of Treacher Collins syndrome. British Journal of Oral and Maxillofacial Surgery. 2014;52(7):581-9.
  • Referans38. Brent B. Auricular repair with autogenous rib cartilage grafts: two decades of experience with 600 cases. Plastic and reconstructive surgery. 1992;90(3):355-74; discussion 75-6.
  • Referans39. Nagata S, editor Total auricular reconstruction with a three-dimensional costal cartilage framework. Annales de chirurgie plastique et esthetique; 1995.
  • Referans40. McCarthy JG, Hopper RA. Distraction osteogenesis of zygomatic bone grafts in a patient with Treacher Collins syndrome: a case report. Journal of Craniofacial Surgery. 2002;13(2):279-83.
  • Referans41. Obwegeser HL. Variations of a standard approach for correction of the bird-face deformity. Journal of Cranio-Maxillofacial Surgery. 1988;16:247-65.
  • Referans42. Damlar İ, Altan A, Turgay B, Kiliç S. Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible. Journal of the Korean Association of Oral and Maxillofacial Surgeons. 2016;42(6):388-92.
  • Referans43. Dixon J, Dixon MJ. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. Developmental dynamics: an official publication of the American Association of Anatomists. 2004;229(4):907-14.
Year 2019, Volume: 9 Issue: 2, 213 - 217, 28.06.2019
https://doi.org/10.31832/smj.532801

Abstract

References

  • Referans1. Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. The international journal of biochemistry & cell biology. 2009;41(6):1229-32.
  • Referans2. 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. American Journal of Medical Genetics Part A. 2005;134(4):363-7.
  • Referans3. Fazen LE, Elmore J, Nadler HL. Mandibulo-Facial Dysostosis:(Treacher-Collins Syndrome). American Journal of Diseases of Children. 1967;113(4):405-10.
  • Referans4. Rovin S, Dachi SF, Borenstein DB, Cotter WB. Mandibulofacial dysostosis, a familial study of five generations. The Journal of pediatrics. 1964;65(2):215-21.
  • Referans5. Dixon M, Marres H, Edwards S, Dixon J, Cremers C. Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clinical dysmorphology. 1994;3(2):96-103.
  • Referans6. Marres HA, Cremers W, Dixon MJ, Huygen PL, Joosten FB. The Treacher Collins syndrome: a clinical, radiological, and genetic linkage study on two pedigrees. Archives of Otolaryngology–Head & Neck Surgery. 1995;121(5):509-14.
  • Referans7. Splendore A, Silva EO, Alonso LG, Richieri‐Costa A, Alonso N, Rosa A, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Human mutation. 2000;16(4):315-22.
  • Referans8. Teber ÖA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. European journal of human genetics. 2004;12(11):879.
  • Referans9. Bowman M, Oldridge M, Archer C, O'rourke A, McParland J, Brekelmans R, et al. Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome. European Journal of Human Genetics. 2012;20(7):769.
  • Referans10. Katsanis SH, Jabs E. Treacher collins syndrome. GeneReviews1993.
  • Referans11. Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nature genetics. 2011;43(1):20.
  • Referans12. Group TTCSC, Dixon J, Edwards SJ, Gladwin AJ, Dixon MJ, Loftus SK, et al. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature genetics. 1996;12(2):130.
  • Referans13. Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. American journal of human genetics. 1997;60(3):515.
  • Referans14. So RB, Gonzales B, Henning D, Dixon J, Dixon MJ, Valdez BC. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene. 2004;328:49-57.
  • Referans15. Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey J-P, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nature medicine. 2008;14(2):125.
  • Referans16. van Gijn DR, Tucker AS, Cobourne MT. Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. British Journal of Oral and Maxillofacial Surgery. 2013;51(5):384-8.
  • Referans17. Su P-H, Chen J-Y, Chen S-J, Yu J-S. Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. Journal of the Formosan Medical Association. 2006;105(6):518-21.
  • Referans18. Poswillo D. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). British Journal of Oral Surgery. 1975;13(1):1-26.
  • Referans19. Plomp RG, Versnel SL, van Lieshout MJ, Poublon RM, Mathijssen IM. Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome. Journal of Plastic, Reconstructive & Aesthetic Surgery. 2013;66(8):e217-e26.
  • Referans20. Arvystas M, Shprintzen RJ. Craniofacial morphology in Treacher Collins syndrome. The Cleft Palate-Craniofacial Journal. 1991;28(2):226-31.
  • Referans21. Kobus K, Wójcicki P. Surgical treatment of Treacher Collins syndrome. Annals of plastic surgery. 2006;56(5):549-54.
  • Referans22. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. European Journal of human genetics. 2009;17(3):275.
  • Referans23. Kay ED, Kay CN, Opitz JM, Reynolds JF. Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis. American journal of medical genetics. 1989;32(1):27-31.
  • Referans24. Magalhães MH, da Silveira CB, Moreira CR, Cavalcanti MGP. Clinical and imaging correlations of Treacher Collins syndrome: report of two cases. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2007;103(6):836-42.
  • Referans25. Colmenero C, Esteban R, Albarino AR, Colmenero B. Sleep apnoea syndrome associated with maxillofacial abnormalities. The Journal of Laryngology & Otology. 1991;105(2):94-100.
  • Referans26. Shapira J, Gleicher H, Moskovitz M, Peretz B. Respiratory arrest in Treacher Collins syndrome: implications for dental management: case report. Pediatr Dent. 1996;18(3):242-4.
  • Referans27. Chong DK, Murray DJ, Britto JA, Tompson B, Forrest CR, Phillips JH. A cephalometric analysis of maxillary and mandibular parameters in Treacher Collins syndrome. Plastic and reconstructive surgery. 2008;121(3):77e-84e.
  • Referans28. Miller JJ, Schendel SA. Invited discussion: Surgical treatment of Treacher Collins syndrome. Ann Plast Surg. 2006;56(5):555-6.
  • Referans29. Chigurupati R. Orthognathic surgery for secondary cleft and craniofacial deformities. Oral and Maxillofacial Surgery Clinics. 2005;17(4):503-17.
  • Referans30. Caccamese JF, Ruiz RL, Costello BJ. Costochondral rib grafting. Atlas of the oral and maxillofacial surgery clinics of North America. 2005;13(2):139-49.
  • Referans31. da Silva Dalben G, Costa 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, Oral Radiology, and Endodontology. 2006;101(5):588-92.
  • Referans32. Murdoch-Kinch C. Developmental disturbances of the face and jaws. Oral radiology: principles and interpretation. 2009:562-77.
  • Referans33. Roberts F, Pruzansky S, Aduss H. An x-radiocephalometric study of mandibulofacial dysostosis in man. Archives of oral biology. 1975;20(4):IN5.
  • Referans34. Prahl-Andersen B. Dental treatment of predental and infant patients with clefts and craniofacial anomalies. The Cleft palate-craniofacial journal. 2000;37(6):528-32.
  • Referans35. Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. The Cleft palate-craniofacial journal. 2000;37(5):1-22.
  • Referans36. de Oliveira Lira Ortega A, Liarte Figueiredo Zwir LM, Ciamponi AL, Guimarães AS, Alonso LG. Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case report. The Cleft Palate-Craniofacial Journal. 2007;44(6):678-82.
  • Referans37. Cobb AR, Green B, Gill D, Ayliffe P, Lloyd TW, Bulstrode N, et al. The surgical management of Treacher Collins syndrome. British Journal of Oral and Maxillofacial Surgery. 2014;52(7):581-9.
  • Referans38. Brent B. Auricular repair with autogenous rib cartilage grafts: two decades of experience with 600 cases. Plastic and reconstructive surgery. 1992;90(3):355-74; discussion 75-6.
  • Referans39. Nagata S, editor Total auricular reconstruction with a three-dimensional costal cartilage framework. Annales de chirurgie plastique et esthetique; 1995.
  • Referans40. McCarthy JG, Hopper RA. Distraction osteogenesis of zygomatic bone grafts in a patient with Treacher Collins syndrome: a case report. Journal of Craniofacial Surgery. 2002;13(2):279-83.
  • Referans41. Obwegeser HL. Variations of a standard approach for correction of the bird-face deformity. Journal of Cranio-Maxillofacial Surgery. 1988;16:247-65.
  • Referans42. Damlar İ, Altan A, Turgay B, Kiliç S. Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible. Journal of the Korean Association of Oral and Maxillofacial Surgeons. 2016;42(6):388-92.
  • Referans43. Dixon J, Dixon MJ. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle. Developmental dynamics: an official publication of the American Association of Anatomists. 2004;229(4):907-14.
There are 43 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Articles
Authors

Aslı Soğukpınar 0000-0002-1934-9945

Merve Mutluay 0000-0002-2935-5126

Publication Date June 28, 2019
Submission Date February 26, 2019
Published in Issue Year 2019 Volume: 9 Issue: 2

Cite

AMA Soğukpınar A, Mutluay M. Treacher Collins Sendromu’nda Dentofasiyal Bulgular ve Tedavi Yaklaşımı. Sakarya Tıp Dergisi. June 2019;9(2):213-217. doi:10.31832/smj.532801

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