Treacher-Collins syndrome

Case contributed by Dr Dalia Ibrahim

Presentation

Facial dysmorphism and diminution of hearing (mainly at the left ear).

Patient Data

Age: 0-10
Gender: Female
CT

Hypoplastic zygomatic arches.

Bilateral pronounced mandibular antegonial notches & rather short rami.

Small left mandibular condyle, coronoid process & glenoid fossa.

Atresia of the left external auditory canal and middle ear cavity with dysplastic ossicles.

Small right middle ear cavity.

Normal inner ear structures on both sides.

The mastoids are not pneumatized.

 

Case Discussion

This is a known case of "Treacher-collins syndrome"

The Treacher Collins syndrome (TCS) (also called mandibulofacial dysostosis (MCD)) is a genetic abnormality due to bilateral malformation of 1st and 2nd branchial arches.

This case is courtesy of Dr Mohamed Ibrahim, Al Sheikh Zayed specialized Hospital, Egypt

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Case information

rID: 31774
Case created: 27th Oct 2014
Last edited: 18th May 2017
Inclusion in quiz mode: Included

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