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Treacher Collins syndrome

Case contributed by Ajay Chugh
Diagnosis almost certain

Presentation

Patient presented with midface hypoplasia.

Patient Data

Age: 17 years
Gender: Male
ct
  • atretic external auditory canal with hypoplastic middle ear and absent ossicles
  • midline cleft palate
  • underdeveloped zygomatic and pterygoid part
  • hypoplastic mandible and maxilla
  • anterior concavity of mandible
  • hypoplastic left parotid
  • parotid duct calculi

Case Discussion

In Treacher Collins syndrome, 1st and 2nd branchial arch structures are affected but the inner ear structures are normal.

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