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Adv Neonatal Care. 2011 Dec;11(6):389-94; quiz 395-6. doi: 10.1097/ANC.0b013e3182338070.

Treacher Collins syndrome: a case review.

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Regis University, Denver, Colorado, USA.


Treacher Collins syndrome is named after the English surgeon Edward Treacher Collins, who initially described the syndrome's traits in 1900. This rare autosomal dominant disorder affects approximately 1:50 000 live births. It primarily affects the development of facial structures through a mutation in the TCOF1 gene found at the 5q32-33.1 loci. While common facies and phenotype can be described with this syndrome, the gene has a wide variation of expressivity, thus making the diagnosis of mild cases challenging. This study involves a term female diagnosed with Treacher Collins syndrome, who was also diagnosed with Tracheal Esophageal Fistula. She is expected to be of normal intelligence but, as is typical for Treacher Collins syndrome, has conductive hearing loss and therefore is at risk for developmental delay. This article describes her hospital course and outcomes thus far and is intended to guide the bedside practitioner in recognition and guidance of families in the future.

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