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Pediatric syndromes of Head and Neck

  • Down Syndrome
  • Velocardiofacial Syndrome
  • Branchio-Otorenal Syndrome
  • Treacher-Collins Syndrome
  • Crouzon and Apert Syndrome
  • Pierre Robin Sequence
  • CHARGE Association
  • Characteristics
    • Likely due to abnormal migration of neural crest cells into first and second branchial arch structures
    • Usually bilateral and symmetric
    • Malar and supraorbital hypoplasia
    • Non-fused zygomatic arches
    • Cleft palate in 35%
    • Hypoplastic paranasal sinuses
    • Downward slanting palpebral fissures
    • Mandibular hypoplasia with increased angulation
    • Coloboma of lower eyelid with absent cilia
    • Malformed pinna
    • Normal intelligence


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