Physiology & Biochemistry · single question

Treacher Collins syndrome is BEST identified by which feature?

  1. Multiple odontogenic keratocysts
  2. Premature cranial suture closure
  3. Midface deficiency without intellectual disability
  4. Malformed or absent ears (microtia/anotia)
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Correct answer: D. Malformed or absent ears (microtia/anotia)

Treacher Collins syndrome features bilateral ear malformations (microtia/anotia), downward-slanting palpebral fissures, coloboma, and mandibular/zygomatic hypoplasia.
  • A. ❌ Multiple OKCs are a feature of Gorlin syndrome.
  • B. ❌ Premature cranial suture closure characterizes Crouzon syndrome.
  • C. ❌ Midface deficiency without intellectual disability describes Crouzon syndrome.
  • D. ✅ CORRECT – Ear malformation (microtia) is a hallmark of Treacher Collins.

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