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Pathology · single question

Pierre Robin sequence is associated with which other syndrome?

  1. Down syndrome (Trisomy 21)
  2. Gorlin syndrome (Basal Cell Nevus)
  3. Treacher Collins syndrome
  4. Stickler syndrome
Show answer and explanation

Correct answer: D. Stickler syndrome

  • A. Incorrect. Down syndrome (Trisomy 21) has its own distinct features (macroglossia, hypodontia, periodontal disease) and is not specifically associated with Pierre Robin sequence.
  • B. Incorrect. Gorlin syndrome is characterized by multiple OKCs, basal cell carcinomas, and various skeletal anomalies — not Pierre Robin.
  • C. Incorrect. Treacher Collins syndrome has mandibular hypoplasia but is a distinct entity caused by TCOF1 mutations — different from Pierre Robin/Stickler.
  • D. Correct. PIERRE ROBIN SEQUENCE (micrognathia, glossoptosis, cleft palate) is most commonly associated with STICKLER SYNDROME — an autosomal dominant connective tissue disorder affecting collagen II production. Stickler syndrome is the most common genetic diagnosis found in patients with Pierre Robin sequence.

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