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Pathology · single question

Pierre Robin sequence is most closely associated with which other syndrome?

  1. Treacher Collins syndrome
  2. Crouzon syndrome
  3. Goldenhar syndrome
  4. Stickler syndrome
Show answer and explanation

Correct answer: D. Stickler syndrome

Stickler syndrome is the most common syndrome associated with Pierre Robin sequence, present in up to 30% of cases.
  • A. Treacher Collins has distinct features (malar hypoplasia, coloboma) and is not closely associated with Pierre Robin.
  • B. Crouzon syndrome involves premature craniosynostosis and is not classically associated with Pierre Robin sequence.
  • C. Goldenhar syndrome (hemifacial microsomia) involves hemifacial asymmetry and vertebral anomalies — not typically associated with Pierre Robin.
  • D. CORRECT. Stickler syndrome (COL2A1 mutations) is the most commonly associated condition with Pierre Robin sequence. Stickler causes connective tissue/collagen abnormalities producing Pierre Robin features plus myopia and joint hypermobility.

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