Syndromic Scoliosis

Clinical Features of Syndromic Dysplastic Curves 

• Atypical shape 
  • Long C 
  • Short angular curve 
  • High rotation 
  • Bony dysplasia 
• Atypical progression 
  • Variable rates 
  • Progress after fusion 
• Systemic Features 

Types 

• Neurofibromatosis 
  • Dystrophic 
  • Non dystrophic 
  • Dural ectasia 
• Marfan’s 
  • Dural ectasia 
• Rett 
• Ehlers Danlos 
• Prader Willi 
• OI 
• Down’s 

Dural ectasia findings (NF and Marfan) 

• Vertebral scalloping (posterior and lateral) 
• Vertebral rotation 
• Interpedicular distance widening 
• Pedicular narrowing 
• Foraminal widening 
• Rib penciling 

Neurofibromatosis 

• NF 1 only, not with NF 2 
• Associated 
  • AL bowing 
  • 6 Dx criteria  
  • UE bowing 
  • Neurofibromas 
• 2 Types 
  • Idiopathic (nondystrophic) 
    • Long curve, more like AIS 
  • Dystrophic 
    • 3 features 
      • Sharp short curve (4-6 vertebrae) 
      • Segmented and  
      • Distorted ribs and vertebrae 
    • XR 
      • Dural ectasia findings 
      • Rib pencilling 
        • (>3 rib pencilling suggests rapid currve progression) 
    • MRI 
      • Dural ectasia (herniation of nerve root sleeves) 
      • Dumbbell lesion (on nerve root) 
      • Neurofibromas in canal (especially cervical) 
• Management 
  • Idiopathic like AIS 
    • More common 
    • Earlier thatn AI, worse outcomes than AIS 
    • Monitor these – they can undergo modulation – aka where dystrophic features develop 
    • Duranni: 65% modulation rate 
      • 81% modulation if presentation of Nondystrophic Scoli at age 7 
  • Dystrophic 
    • Young age best predictor to progression to dystrophic 
    • Bracing ineffective 
    • Anterior and Posterior fusion 
      • perform <7 
      • High pseudoarthrosis with PSIF only (40%) 

Marfan’s Syndrome