Treacher Collins syndrome: a case report

Year 2018, Volume: 43 Issue: 3, 718 - 721, 30.09.2018

Medhini Madi , Subhas G. Babu Supriya Bhat , Ananya Madiyal

https://doi.org/10.17826/cumj.396837

Abstract

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

Treacher Collins sendromu: bir olgu sunumu

Abstract

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.

Keywords

Treacher Collins sendromu

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