THE PRESENT conception of mandibulo-facial dysostosis (Treacher-Collins syndrome) has been formulated primarily by Franceschetti,1,2 Zwahlen,1 and Klein.2 There has been considerable controversy as to the first person to describe this syndrome since Thomson,3 Canton,4 Berry,5 and Collins6 published case reports which clearly fall into the syndrome complex.
The classical signs of mandibulo-facial dysostosis include the following: (1) lack of development of the auricle, which may be associated with atresia of the external auditory canal, deformed middle-ear ossicles, and congenital hearing loss. (2) Palpebral fissures slope downward and laterally giving the impression of antimongoloid shaped eyes. (3) Coloboma or notching in the temporal portion of the lower lids with deficient or absent eyelashes in the medial two thirds of the lower lids. (4) Hypoplasia of the facial bones, especially the mandibular and zygomatic bones, resulting in micrognathia and a "fish-like" facial appearance.
Fazen LE, Elmore J, Nadler HL. Mandibulo-Facial Dysostosis: (Treacher-Collins Syndrome). Am J Dis Child. 1967;113(4):405–410. doi:10.1001/archpedi.1967.02090190051001
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: