International Journal of Clinical Pediatric Dentistry

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VOLUME 4 , ISSUE 3 ( September-December, 2011 ) > List of Articles

CASE REPORT

Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids

Sowmya B Shetty, Raghavendra Pidamale

Keywords : Treacher Collins syndrome, Mandibulofacial dysostosis, Treacle, Clinical features, Treatment

Citation Information : Shetty SB, Pidamale R. Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids. Int J Clin Pediatr Dent 2011; 4 (3):235-239.

DOI: 10.5005/jp-journals-10005-1116

License: CC BY-NC 4.0

Published Online: 01-12-2014

Copyright Statement:  Copyright © 2011; The Author(s).


Abstract

Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their extraoral findings, intraoral findings and their treatment plan. We have also included the various etiological factors, clinical diagnostic aids, and multidisciplinary team approach.


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  1. Atlas of genetic diagnosis and counseling, Harold Chen, MD, FAPP, FACMG, Professor of Pediatrics, Obstetrics and Gynecology and Pathology, Louisiana State University Health Science Center, Shreveport, LA. Humana Press, Totowa, New Jersey 2006;967-71.
  2. Children's cranial association, http://www.ccakids.com/Syndrome/Treacher Collins.pdf.
  3. Marszatek 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.
  4. Abengochea Cotaina A, Sanmiguel Gil G, Vila Sánchez M, Martínez Trens M, Baena Montilla P. Anesthesia in a patient with Treacher Collins syndrome. Rev Esp Anestesiol Reanim 1990;37(2):95-97.
  5. Fahim Ahmed Shah, Ramakrishna S, Ingle Vijendra, Dada JE, Khabori Mazin Al, Murty PSN. Treacher Collins syndrome with acute airway obstruction. International Journal of Pediatric Otorhinolaryngology 2000;54:41-43.
  6. Daisuke Sakai, Trainor Paul A. Treacher Collins syndrome: Unmasking the role of Tcof1/treacle. Int J Biochem Cell Boil 2009;41(6):1229-32.
  7. Trainor PA. Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention. Am J Med Genet A 2010;152A(12):2984-94.
  8. 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):344-48.
  9. Edua R Do C Andr Ade, Júnior Vanier S, Didoni Ana LS, Pr Iscila Z Fr Eita S, Ar A Ken F Ca R Neir O, Yoshimoto Fabiana R. Treacher Collins syndrome withchoanal atresia: A case report and review of disease features. Rev Bras Otorrinolaringol 2005;71(1):107-10.
  10. The National Craniofacial Association, http://www.facescranio. org.
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