Prader-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
August 3rd 2010
Categories
Internal Medicine
Pediatrics
Links
Files & Images
Example
Hypotonia