Treacher Collins Sendromu ve Üç Boyutlu Bilgisayarlı Tomografi: Olgu Sunumu

Treacher Collins sendromu özellikle yüzü ve kafayı etkileyen otozomal dominant geçişli genetik bir hastalıktır. Bu yazıda malar hipoplazi, dış kulak anomalileri, antimongoloid göz yerleşimi ve alt göz kapağında kirpiklerin kısmi yokluğu ile Treacher Collins sendromu tanısı konan 3 aylık bir kız çocuk olgusu tarafımızdan sunulmaktadır. Bu yazının amacı 3 boyutlu BT'nin Treacher Collins sendromuna eşlik edebilen kraniyosinostozun saptanmasında yararlı bir tetkik olduğunun vurgulanmasıdır.

Treacher Collins Syndrome and Three Dimension Computerized Tomography: Case Report

Treacher Collins Syndrome is an autosomal dominant genetic disorder and affects particularly the head and face. We present here the case of a 3-month-old girl who had malar hypoplasia, external ear abnormalities, antimongoloid slant of the eyes and lower lid with absent cilia. She was diagnosed with Treacher Collins syndrome. Hereby, the aim of this report, we emphasize the diagnostic value of three-dimensional CT for evaluating the craniosynostoses associated with Treacher Collins syndrome.

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