Congenital- Ehlers-Danlos

Question 1

Def.

Answer 1

• group of disorders which share common features including:
• easy bruising,
• joint hypermobility (loose joints),
• skin that stretches easily (skin hyperelasticity or laxity), and;
• weakness of tissues.
• inherited
• aka ‘Rubberman’

Question 2

Dx

Answer 2

• based on clinical findings and family Hx

Question 3

Radiol Fx

Answer 3

• Calcified subcutaneous spherules in pre-tibial soft tissue and along the forearms.
• Posterior VB scalloping (CSF pulsates in ectatic thecal sac).
• Diminished thoracic kyphosis (poss. Lordotic).
• Spondylosis and spondylolythesis.
• Pectus excurvatum or carinatum.