In 1949 Franceschetti and Klein published the first comprehensive review of the topic and introduced the term mandibulofacial dysostosis 1,4. Treacher Collins syndrome is a craniofacial deformity, meaning that the bones and tissues of the face do not develop as they should. The condition is believed, however, to have been described first by Thompson in 1846 4. It affects structures like the jaw, nose, ears, and cheeks. Treacher Collins syndrome was named after Edward Treacher Collins (1862-1932), an English ophthalmologist and surgeon who published two cases in 1900, describing many of the features 1,4.
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