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Updated: Jul 27 2025

Achondroplasia

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  • summary
  • Epidemiology
  • Etiology
  • Presentation
  • Imaging
  • DIAGNOSIS
  • DIFFERENTIAL DIAGNOSIS
  • Treatment - Spine Conditions
    • Foramen magnum stenosis
      • nonoperative
        • observation
          • indication
            • absence of central sleep apnea
            • absence of cord compression
            • neurologically intact
          • technique
            • repeat MRI at 6-12 months of age
      • operative
        • surgical decompression of foramen magnum
          • indications
            • central sleep apnea
            • cord compression
            • neurologic deficits including weakness, hyperreflexia and clonus
          • technique
            • foramen magnum decompression with upper cervical laminectomy +/- duraplasty
            • intraoperative ultrasonography to confirm satisfactory spinal canal decompression
            • duraplasty performed if compression persisted after bony/fibrous decompression
          • outcome
            • 10% recurrent stenosis requiring surgery
    • Thoracolumbar kyphosis
      • nonoperative
        • observation
          • indication
            • initial management for most
          • technique
            • early prohibition of unsupported sitting
              • use firm-backed seating devices 
              • avoid curling the infant into a C-position
              • use hand counterpressure when holding infant
              • prohibit sitting up more than 60°
            • limit putting significant weight on anterior portion of vertebrae
          • outcome
            • 90% improve
              • more pronounce when infant begin to sit
              • most resolve at 12-18 months as trunk strength improves and child begins to walk
                • 90% from 1-2 years of age 
                • 39% from 2-5 years of age
                • 11% from age 5-10 years of age
        • bracing
          • indication 
            • fixed component >30 deg (prone lateral radiographs)
            • substantial anterior vertebral wedging 
            • posterior displacement of the vertebrae at the apex
          • technique
            • TLSO orthosis
              • worn until the child walks independently
              • anterior corners of vertebrae reconstitute
              • fixed component of the curve stops improving
          • outcomes
            • kyphosis responds to brace treatment
              • 8° mean residual kyphosis and patients tend not to develop progressive kyphosis
              • may be poorly tolerated 
      • operative
        • posterior fusion with instrumentation +/- anterior decompression
          • indications
            • neurologic compromise 
            • kyphosis of > 45-60°
            • bracing has failed
          • technique
            • delay until age of 4 so patient is large enough to use of instrumentation
            • corpectomy if severe anterior cord impingement or severe fixed deformity
            • fluoroscopic guidance for pedicle screw placement
    • Lumbar stenosis
      • nonoperative
        • weight loss, physical therapy, corticosteroid injections
          • indications
            • first line of treatment
      • operative
        • multilevel laminectomy and fusion
          • 25% will require surgery
          • indications
            • severe neurogenic claudication  
            • failed nonoperative management
            • neurologic symptoms at rest
          • technique
            • adress lateral recess stenosis 
            • laminectomy should extend 3 levels cephalad to myelographic block and caudad to at least S2 to throughly decompress and avoid early recurrence
            • instrumentation entering canal (wires, laminar hooks) are contraindicated due to narrow canal
            • pedicle screw fixation preferred but challenging
              • morphology of pedicle different than normal spine
                • pedicle directed cranially at all levels
                • on average, 10mm shorter 
                • similar transverse pedicle diameter but smaller sagittal diameter 
          • outcomes
            • high rate of revision with limited improvement with laminectomy alone
            • post-laminectomy kyphosis common complication (despite preserving >50% facet) 
              • consider fusion if performing laminectomy at 5 or more levels or skeletally immature patient
    • Lumbar hyperlordosis
      • nonoperative
        • observation
          • typically asymptomatic and treatment not required
        • physical therapy 
          • low back, lower abdominal muscle strengthening, psoas stretching
          • low compliance
    • Spine-related complications
      • recurrent foramen magnum stenosis
      • cerebral spinal fluid leaks 
      • malpositioned screw
        • abnormal pedicle morphology
      • neurologic complication
        • overcorrection 
        • malpositioned screw
        • use of wiring or laminar hooks
      • post-laminectomy kyphosis
        • very common following decompression for spinal stenosis
        • add instrumentation 
  • Treatment - Extremity Conditions
  • Complications
  • PROGNOSIS
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Pediatrics | Achondroplasia
  • Pediatrics
  • - Achondroplasia
14:14 min
10/16/2019
978 plays
4.7
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Question Session⎪Achondroplasia & Infectious Diseases in Athletes
  • Pediatrics
  • - Achondroplasia
17:39 min
11/8/2019
59 plays
5.0
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(1)
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