Pathology · single question

Significant ear deformities (such as microtia) combined with malar and mandibular hypoplasia are classically associated with which syndrome?

  1. Treacher Collins syndrome (mandibulofacial dysostosis)
  2. Down syndrome
  3. Crouzon syndrome
  4. Pierre Robin sequence alone
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Correct answer: A. Treacher Collins syndrome (mandibulofacial dysostosis)

Treacher Collins syndrome (mandibulofacial dysostosis) classically presents with malar and mandibular hypoplasia, downward-sloping palpebral fissures, and significant ear anomalies (including microtia and conductive hearing loss), resulting from abnormal first and second pharyngeal arch development.

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