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Diastrophic Dysplasia

 
  • short-limbed dwarfism  
  • Autosomal Recessive inheritance
  • deficiency in sulfate transport protein
  • risk of quadriplegia

Diastrophic Dysplasia Clinical Evaluation

  • “twisted” dwarf
  • cleft palate
  • joint contractures
  • cauliflower ears
  • hitchhiker thumb
  • rigid clubfoot
  • cervical kyphosis
  • AA instability