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Question 8#

Which is false regarding Treacher-Collins syndrome?

a. It is the same as Franceschetti syndrome and mandibulofacial dysostosis
b. It is relatively rare with an incidence of 1:25,000-1:50,000
c. It is equivalent to combined Tessier clefts 7, 8 and 9
d. Cleft palate is often a feature
e. Angle class II malocclusion is a feature

Correct Answer is C

Comment:

It is equivalent to combined Tessier clefts 7, 8 and 9. C is false. It is actually equivalent to a 6, 7 and 8 cleft. This is an autosomal dominant condition with an abnormality of chromosme 5 first described by Treacher Collins in 1900. Colobomas of the lower eyelid are common, as is cleft palate. Ear abnormalities (microtia) are seen and there is an overbite malocclusion.