Challenge of the Week / Pediatrics / 01.31.20

Which the following best describes the diagnosis and treatment options for Ehlers-Danlos syndrome?
  • Ehlers-Danlos syndrome can only be diagnosed by the identification of a gene mutation.
  • Some types can be diagnosed by a gene mutation, while others involve a clinical diagnosis.

  • Arthrodesis can be considered for recalcitrant painful disability of the joint.
  • Stabilization while preserving motion is the first line of treatment, but multiple failures can be managed with arthrodesis.

  • Ehlers-Danlos syndrome is a contraindication for shoulder stabilizing surgery.
  • Shoulder stabilization has lower success rates in the setting of Ehlers-Danlos syndrome, but it is not a contraindication.

  • Hypermobile joints with a Beighton-Horan scale of >5 points are considered definitively diagnostic.
  • Genetic testing also is indicated.

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