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Treacher Collins syndrome: a case report

Year 2018, Volume: 43 Issue: 3, 718 - 721, 30.09.2018
https://doi.org/10.17826/cumj.396837

Abstract

Treacher Collins Syndrome or mandibulofacial dysostosis is a rare congenital malformation involving first and second branchial arches and presents several craniofacial deformities. The occurrence of this syndrome is estimated to range between 1 in 40,000 to 1 in 70,000 live births. The syndrome is characterized by anomalies of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures, coloboma of the lower eyelids and cleft palate. Here we report a case of Treacher Collins Syndrome with a narrative review of the clinical features, radiographic findings, differential diagnosis and various treatment options.

References

  • 1. 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.
  • 2. Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975;86:84-8.
  • 3. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009; 17: 275-83.
  • 4. Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. The gene for Treacher Collins Syndrome maps to the long arm of chromosome 5. Am J Hum Genet. 1991;49:17-22.
  • 5. Mckenzie J, Craige J. Mandibulofacial dysostosis (Treacher Collins syndrome). Arch Dis Child. 1955;30:391-5.
  • 6. Farrar JE. Mandibulo-facial dysostosis: a familial study. Br J Ophthalmol. 1967;51:132-5.
  • 7. Dixon MJ. Treacher Collins syndrome. J Med Genet. 1995;32:806–8.
  • 8. Shete P, Tupkari JV, Benjamin T, Singh A. Treacher Collins syndrome. J Oral Med Pain. 2011;15:348–51.
  • 9. Shetty SB, Thomas A, Pindamale R. Treacher Collins syndrome: a case report and a brief review of diagnostic aids. Int J Clin Pediatr Dent. 2011;4:235-9.

Treacher Collins sendromu: bir olgu sunumu

Year 2018, Volume: 43 Issue: 3, 718 - 721, 30.09.2018
https://doi.org/10.17826/cumj.396837

Abstract

Treacher Collins Sendromu veya mandibulofasiyal disostosis çeşitli kraniyofasiyal deformasyonlar olarak ortaya çıkan birinci ve ikinci brankial kemerleri içeren nadir bir konjenital bozukluktur. Bu sendromun oluşmasının 70,000 canlı doğumda 1 40.000 ile 1 arasında olduğu tahmin edilmektedir. Bu sendrom auriküler pinna anomalileri, yüz kemikleri hipoplazisi, antimonoloid sarkık palpebral çatlaklar, alt göz kapaklarının kolobom ve yarık damak anomalileri ile karakterizedir. Burada klinik özellikleri, radyografik bulgular, ayırıcı tanı ve çeşitli tedavi seçenekleri ile ayrıntılı bir inceleme ile Treacher Collins sendromu olgusu sunulmuştur.

References

  • 1. 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.
  • 2. Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975;86:84-8.
  • 3. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet. 2009; 17: 275-83.
  • 4. Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. The gene for Treacher Collins Syndrome maps to the long arm of chromosome 5. Am J Hum Genet. 1991;49:17-22.
  • 5. Mckenzie J, Craige J. Mandibulofacial dysostosis (Treacher Collins syndrome). Arch Dis Child. 1955;30:391-5.
  • 6. Farrar JE. Mandibulo-facial dysostosis: a familial study. Br J Ophthalmol. 1967;51:132-5.
  • 7. Dixon MJ. Treacher Collins syndrome. J Med Genet. 1995;32:806–8.
  • 8. Shete P, Tupkari JV, Benjamin T, Singh A. Treacher Collins syndrome. J Oral Med Pain. 2011;15:348–51.
  • 9. Shetty SB, Thomas A, Pindamale R. Treacher Collins syndrome: a case report and a brief review of diagnostic aids. Int J Clin Pediatr Dent. 2011;4:235-9.
There are 9 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Report
Authors

Medhini Madi

Subhas G. Babu This is me

Supriya Bhat

Ananya Madiyal

Publication Date September 30, 2018
Acceptance Date September 24, 2017
Published in Issue Year 2018 Volume: 43 Issue: 3

Cite

MLA Madi, Medhini et al. “Treacher Collins Syndrome: A Case Report”. Cukurova Medical Journal, vol. 43, no. 3, 2018, pp. 718-21, doi:10.17826/cumj.396837.