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Introduction
  • A rare genetic disorder with characteristic findings of ligamentous hyperlaxity, abnormal facial features, and multiple joint dislocations
    • dislocations include
      • hips
      • knees (usually bilateral)
      • shoulders
      • elbows (radial head)
  • Epidemiology
    • estimated to be 1 in 100,000 live births
  • 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
      • scoliosis
      • clubfeet
      • cervical kyphosis q
        • 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
      • 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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Questions (1)

(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? Review Topic

QID:1306
1

congenital vertical talus

18%

(73/397)

2

congenital trigger thumb

4%

(16/397)

3

tibial hemimelia

12%

(46/397)

4

cervical kyphosis

54%

(213/397)

5

congenital pseudoarthrosis of clavicle

12%

(49/397)

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PREFERRED RESPONSE 4

Larsen’s syndrome is characterized by multiple dislocated joints, including hip, knee, elbow/radial head, foot deformities, scoliosis, and potentially lethal cervical kyphosis. It is important to obtain screening radiographs of the cervical spine in these patients to identify kyphosis and prevent neurologic complications. Progressive kyphosis may require cervical fusion. In addition to the orthopaedic manifestations, patients can also have laryngeal or tracheal problems, lesions of the heart valves, or aorta, and hyperelasticity syndromes that present as hypotonia.


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