Treacher Collins Syndrome: A Review and Case Presentation
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Apr 29, 2013
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Abstract
The Treacher Collins syndrome (TCS) is a dominant, autosomal craneofacial disorder. Its incidence is 1 in 25,000 to 50,000 live births. It’s caused secondary to mutations in the gen that codifies the treacle protein. Mala hipoplasia and anti mongoloid folds characterize it. The diagnosis is made by clinical examination and its treatment requires a multidisciplinary approach. This article makes a brief review of the STC and presents the case of a patient diagnosed and treated in the Hospital Universtario San Ignacio.
Keywords
disostosis mandibulofacial, anomalías cigoma, Mandibulofacial dysostosis, zygoma anomalies,
References
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2. Genetics Home Reference. TCOF1 [internet]. 2012. Disponible en: http://ghr.nlm.nih.gov/gene/TCOF1.
3. Posnick JC, al-Qattan MM, Moffat SM, Armstrong D. Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: comparison with normal controls. Cleft Palate Craniofac J. 1995 Jan;32(1):20-4.
4. Roberts FG, Pruzansky S, Aduss H. An x-radiocephalometric study of mandibulofacial dysostosis in man. Arch Oral Biol. 1975 Apr;20(4):265-81.
5. Edwards SJ, Fowlie A, Cust MP, et al. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J Med Genet. 1996;33:603-6.
6. Toshihiko H, Satoru S, Akihiko O, et al. New grading system for patients with Treacher Collins syndrome. J Craniofac Surg. 2007 Jan;18(1):113-9.
7. Harriet A, Britt Ø, Pamela A, Nina S, Ketil H. Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol. 2012;269:331-7.
8. Thompson JT, Anderson PJ, David DJ. Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg. 2009 Nov;20(6):2028-35.
2. Genetics Home Reference. TCOF1 [internet]. 2012. Disponible en: http://ghr.nlm.nih.gov/gene/TCOF1.
3. Posnick JC, al-Qattan MM, Moffat SM, Armstrong D. Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: comparison with normal controls. Cleft Palate Craniofac J. 1995 Jan;32(1):20-4.
4. Roberts FG, Pruzansky S, Aduss H. An x-radiocephalometric study of mandibulofacial dysostosis in man. Arch Oral Biol. 1975 Apr;20(4):265-81.
5. Edwards SJ, Fowlie A, Cust MP, et al. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J Med Genet. 1996;33:603-6.
6. Toshihiko H, Satoru S, Akihiko O, et al. New grading system for patients with Treacher Collins syndrome. J Craniofac Surg. 2007 Jan;18(1):113-9.
7. Harriet A, Britt Ø, Pamela A, Nina S, Ketil H. Obstructive sleep apnea in Treacher Collins syndrome. Eur Arch Otorhinolaryngol. 2012;269:331-7.
8. Thompson JT, Anderson PJ, David DJ. Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg. 2009 Nov;20(6):2028-35.
How to Cite
Leyva, J. C., & Mallarino Restrepo, G. (2013). Treacher Collins Syndrome: A Review and Case Presentation. Universitas Medica, 55(1), 64–70. https://doi.org/10.11144/Javeriana.umed55-1.stcr
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Section
Reviews