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Prader-Willi Syndrome

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Topic updated on 11/30/14 7:09pm
Introduction
  • Epidemiology
    • incidence
      • 1 in 25,000 births
  • Genetics
    • partial chromosome 15 deletion
  • Associated conditions
    • orthopaedic
      • growth retardation
      • hip dysplasia
      • juvenile onset scoliosis
      • genu valgum
      • pes planus
      • leg length difference
    • medical
      • hypotonic 
      • obese
      • intellectually impaired
      • insatiable appetite
      • hypoplastic genitalia
Presentation
  • Symptoms
    • failure to thrive in infancy
    • weak cry
    • aggressive behavior
    • abnormal facial features
      • almond-shaped eyes
      • small, down-turned mouth
  • Physical exam
    • small for gestational age
    • hypoplastic or undescended testicles
    • delayed onset of puberty
    • truncal obesity at 1-4 years of age
    • slow motor development
    • may show signs of right-sided heart failure
    • knee and hip instability
Imaging
  • Radiographs
    • recommended views
      • scoliosis films
      • consider AP pelvis to identify hip dysplasia
Evaluation
  • Diagnosis is based primarily on physical exam at infancy
  • Labs
    • glucose intolerance
    • high insulin level
    • failure to respond to LHrF
    • high CO2, low O2
  • Genetic testing
    • may identify missing portion of chromosome 15 to confirm diagnosis
Treatment
  • Nonoperative
    • bracing
      • indications: curves over 20°-25° in children less than 10 years of age
      • efficacy may be compromised by obesity
  • Operative
    • growth rods
      • indications
        • children under the age of 10 who cannot maintain a curve under 50°
    • posterior spinal fusion
      • indications- older children with curves greater than 50°
      • complications may be higher than in idiopathic scoliosis
 

 

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