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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

 

  • Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. Journal of Oral & Maxillofacial Surgery, 55:1120–1133, 1997

  • Pirinen S. Genetic craniofacial aberrations. Acta Odontologica Scandinavica, 1956:356-359, 1998

  • Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate-Craniofacial Journal, 37:434, 2000

  • 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

  • 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

  • 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

  • Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. European Journal of Human Genetics, 17:275–283, 2009

  • Passos-Bueno MR, Ornelas CC, Fanganiello RD. Syndromes of the first and second pharyngeal arches: A review. American Journal of Medical Genetics, 149A:1853–1859, 2009

  • 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

  • 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

  • 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