Updated: 6/16/2021

Larsen's Syndrome

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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
    • Associated conditions
      • orthopaedic manisfestations
        • hand deformities
        • dislocations
          • hips
          • knees (usually bilateral)
          • shoulders
          • elbows (radial head)
        • scoliosis
        • clubfeet
        • cervical kyphosis
          • may present with extremity weakness secondary to myelopathy
          • caused by hypoplasia of the cervical vertebrae
  • 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
    • Radiographs
      • recommended
        • AP and lateral of cervical spine
          • during first year of life
          • prior to any intubation to avoid iatrogenic spinal cord injury
        • AP pelvis and lateral of hips
          • ultrasound if less than 3 months
      • findings
        • hypoplasia of vertebrae
        • cervical kyphosis with subluxation
        • hip dislocation
    • MRI
      • recommended
        • cervical kyphosis
        • myelopathy
  • Treatment
    • Cervical kyphosis
      • operative
        • posterior cervical fusion
          • indications
            • patients with significant kyphosis but no neurologic deficits
            • recommended to be performed during the first 18 months of life to prevent neurological deterioration
        • anterior/posterior cervical decompression and fusion
          • indications
            • cervical kyphosis with neurologic deficits
    • Hip dislocations
      • nonoperative
        • closed reduction under anesthesia
          • indications
            • may be attempted but rarely successful
      • operative
        • open reduction of hip dislocation
          • indications
            • failed closed reduction
            • decreased range of motion secondary to contractures around hip
            • unilateral hip dislocation
            • bilateral hip dislocation
              • controversial
              • if considering, perform early and only once
    • Knee dislocations
      • nonoperative
        • closed reduction and casting
          • indications
            • may be attempted but rarely successful
      • operative
        • open reduction with femoral shortening and collateral ligament excision
          • indications
            • knee dislocations that remain unstable after closed reduction

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(OBQ04.201) A 5-year-old boy has a history of bilateral dislocated radial heads, bilateral knee dislocations, and flattened facies. What other important orthopaedic-related condition must be checked in this patient?

QID: 1306
1

congenital vertical talus

21%

(217/1030)

2

congenital trigger thumb

3%

(34/1030)

3

tibial hemimelia

11%

(117/1030)

4

cervical kyphosis

53%

(550/1030)

5

congenital pseudoarthrosis of clavicle

11%

(109/1030)

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