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Down's Syndrome

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Topic updated on 02/06/16 10:39pm
Introduction
  • Down's Syndrome is the most common chromosomal abnormality
  • Genetics
    • mutation
      • caused by trisomy 21
  • Associated conditions
    • orthopaedic manifestations
      • generalized ligamentous laxity and hypotonia
      • C1-2 instability 
      • hip subluxation and dislocation
      • patellofemoral instability and dislocation
      • scoliosis & spondylolithesis
      • pes planus
      • primus varus
      • SCFE
    • medical conditions and comorbidities
      • mental retardation
      • heart disease (50%)
      • endocrine disorders (hypothyroidism)
      • premature aging
Cervical Instability
  • Introduction
    • patients with Down Syndrome have high rate of high cervical instability
      • 17.5% have radiographic evidence of atlanto-occipital instability
      • 11.2% have radiographic evidence of atlantoaxial instability
  • Presentation
    • may be subtle
    • often presents as loss or change in motor milestones
  • Radiographs
    • recommended views
      • flexion-extension radiographs of cervical spine
    • findings
      • atlantoaxial instability
        • will show instability with an increase ADI
      • atlanto-occipital instability
        • will have abnormal Power's ratio
  • Treatment
    • nonoperative
      • observation
        • indications
          • asymptomatic children with progressive radiographic instability should avoid contact sports, diving, and gymnastics
    • operative
      • posterior cervical fusion
        • indications
          • myelopathic patients and/or a ADI > 10 mm
  • Complications
    • very high complication rate
Patellofemoral Instability
  • Treatment
    • nonoperative
      • observation only
        • indications
          •  in skeletally mature patient with no pain
    • operative
      • semitendonosis reconstruction
        • indications
          •  skeletally immature symptomatic patients
Hip subluxation and dislocation
  • Introduction
    • caused by ligamentous laxity and muscle hypotonia
    • subluxation can be progressive and lead to degenerative arthritis and pain
  • Treatment
    • nonoperative
      • bracing
        • indications
          •  younger child without bony changes
    • operative
      • capsulorrhaphy and pelvic and femoral osteotomies
        • indications
          • symptomatic older children
        • surgery associated with high complication rate

 

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