Pathology · single question

A patient presents with ear deformities (microtia, absence of external ear structures) and mandibular hypoplasia. Which syndrome does this suggest?

  1. Pierre Robin sequence
  2. Treacher Collins syndrome (mandibulofacial dysostosis)
  3. Goldenhar syndrome (hemifacial microsomia)
  4. Noonan syndrome
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Correct answer: B. Treacher Collins syndrome (mandibulofacial dysostosis)

Treacher Collins syndrome (mandibulofacial dysostosis) is an autosomal dominant condition caused by mutations in the TCOF1 gene (treacle protein). Classic features: bilateral symmetric downward-slanting palpebral fissures, malar hypoplasia, mandibular hypoplasia (micrognathia), absence of lower eyelashes (coloboma), ear deformities (microtia, anotia), conductive hearing loss, and cleft palate. The bilateral, symmetric involvement distinguishes it from Goldenhar syndrome (typically unilateral).

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