Mandibulo-facial dysostosis--the eye signs of a case study.
The mandibulo-facial dysostosis syndrome (Treacher-Collins syndrome) was first described in 1889. It is a syndrome with multiple presentations, the classification for which was devised by Franceschetti and Zwahlen in 1944. The eye signs are an important part of this syndrome. In addition to the main ocular features of colobomata of the lower eyelids and an anti-mongoloid slant, many other eye signs have been reported. An 18-year-old Indian male was found to have features not previously described. These are high myopia, dermolipoma, lens subluxation and secondary glaucoma.
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Medical Classification Centre, Central Manpower Base, Singapore.
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D000293:Adolescent; D005128:Eye Diseases / Q000150:complications*; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications / Q000175:diagnosis*