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.
Key Words: Treacher Collins Syndrome; Choanal Atresia; Craniosynostosis.
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