Prader-Willi syndrome

Prader-Willi syndromePrader-Willi syndrome
  • Facts:
    Deletion of the long arm chromosome 15 (in 50-70% of cases)
    Example of genetic imprinting transmission
  • History / PE:
    Severe hypotonia at birth
    Hyperphagia / obesity
    Short stature
    Narrow bifrontal diameter
    Diamond shaped eyes



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August 3rd 2010