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Beckwith-Wiedemann Syndrome

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Topic updated on 12/27/14 4:40pm
Introduction
  • An overgrowth syndrome characterized by spectrum of clinical manisfestations, highlighted by:
    • major criteria:
      • overgrowth 
      • abdominal wall defects, incl. omphalocele
      • macroglossia or large tongue
    • minor criteria
      • hemihypertrophy (10-20%)
      • ear anomalies
      • neonatal hypoglycemia
      • nephromegaly
  • Epidemiology
    • incidence
      • 1 in 13,700 births
    • demographics
      • 1:1 male to female
  • Pathophysiology
    • pancreatic islet cell hypertrophy causes repeated bouts of infantile hypoglycemia resulting in spasticity
  • Genetics
    • inheritance
      • sporadic in 85% of cases
      • autosomal dominant with incomplete penetrance in remaining 15%
    • mutation
      • chromosome 11p15.5
  • Associated conditions
    • orthopaedic manifestations
      • hemihypertrophy 
    • medical conditions
      • patients have a predisposition for embryonal tumors, i.e. Wilm's tumor, and should be screened with US every 3-6 months until 5-8 years of age
Presentation
  • Physical exam
    • macroglossia  
    • midface hypoplasia
    • infraorbital creases
    • anterior linear ear lobe creases
    • visceromegaly
    • hemihypertrophy 
Imaging
  • Radiographs
    • recommended views
      • comparison view of affected limb with contralateral limb
Treatment
  • Operative
    • epiphysiodesis
      • indications
        • growth arrest of the affected limb

 

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