Treacher Collins-Franceschetti sendromu
Franceschetti-Zwahlen-Klein sendromu
Mandibulofacial dysostosis 1
Kalıtsal - AD/AR
Mandibulofacial dysostosis kümesi sendromu
İşitme sorunları
Alt göz kapağı anomalileri
Göz dış açıları aşağı doğru çekik
Mikroftalmi
Koloboma
Kirpik yokluğu
Kırma kusurları (görmede bozulma)
Strabismus
Burun çıkıntısı belirgin
Kulak hipoplazisi
Zigomatik ark hipoplazisi
Mandibula hipoplazisi
Yüz orta bölüm hipoplazisi
Ağız ve burun delikleri büyük
Ağız boşluğunun köşelerinde kör fistüller
Altçene alt kenarı konkav
Mikrognati
Retrognati
Çukur damak
Yarık dudak
Yarık damak
Yumuşak damak hipoplazisi/agenezi
Diastemalar
Maloklüzyon (open-bite)
Neonatal dişler
Dişlerde hipoplaziler
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Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate-Craniofacial Journal, 37:434, 2000
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Marszalek B, Wojcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. Journal of Applied Genetics, 43:223–233, 2002
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Teber OA, Gillessen-Kaesbach G, Fischer S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. European Journal of Human Genetics, 12:879–890, 2004
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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, & Endodontology, 101:588–592, 2006
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Asten P, Skogedal N, Nordgarden H, et al. Orofacial functions and oral health associated with Treacher Collins syndrome, Acta Odontologica Scandinavica, 71:3-4, 616-625, 2013
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Cobb AR, Green B, Gill D, et al. The surgical management of Treacher Collins syndrome. British Journal of Oral & Maxillofacial Surgery, 52(7):581-589, 2014
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Vincent M, Genevieve D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in Medicine, 18: 49-56, 2016