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Updated: Jun 16 2021

Larsen's Syndrome

Images
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  • summary
    • Larsen's Syndrome is a rare genetic disorder caused by mutations in filamin B and carbohydrate sulfotransferase 3 deficiency, that presents with characteristic findings of ligamentous hyperlaxity, abnormal facial features, cervical kyphosis, and multiple joint dislocations.
    • Diagnosis is made based on family history associated with typical radiographic and clinical features. No commercially available diagnostic test exists due to the variety of genetic mutations.
    • Treatment is usually open reduction for joint dislocations and early posterior spinal fusion for cervical kyphosis to prevent neurological deterioration. 
  • Epidemiology
    • Incidence
      • estimated to be 1 in 100,000 live births
  • Etiology
    • Genetics
      • autosomal dominant (AD) and recessive (AR) inheritance patterns
        • AD linked to a mutation of the gene encoding filamin B
        • AR linked to carbohydrate sulfotransferase 3 deficiency
  • Presentation
    • Symptoms
      • patients have normal intelligence
    • Physical exam
      • hypotonia
        • uncommon but may be due to cervical compression
      • abnormal facial features
        • flattened nasal bridge
        • hypertelorism
        • prominent forehead
      • hands
        • long cylindrical fingers that do not taper
        • wide distal phalanx at the thumb
      • elbows
        • bilateral radial head dislocations may be present
      • knees
        • look for bilateral knee dislocations
      • foot deformities
        • equinovarus
        • eqinovalgus
        • clubfeet
  • Imaging
    • MRI
      • recommended
        • cervical kyphosis
        • myelopathy
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Pediatrics⎪Larsen's Syndrome
  • Pediatrics
  • - Larsen's Syndrome
0:0 min
4/20/2020
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