Medhini MADİ, Subhas G. BABU, Supriya BHAT, Ananya MADİYAL

Treacher Collins sendromu: bir olgu sunumu

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.

Treacher Collins syndrome: a case report

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.

Keywords:

Treacher Collins syndrome,

PDF

___

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;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.