Imprinting Disorders Flashcards
1
Q
Prader Willi
-region affected
-presentation
-management
A
C15, paternal part lost
Constant hunger => obesity, T2D
Intellectual impairment
Narrow forehead, small hands and feet
Short
Infertility
Feeding supervision, exercise
GH
Counselling
2
Q
Angelman
-region affected
-presentation
-management
A
C15, maternal part lost
Small head, smiley
Intellectual, developmental disability
Ataxia, seizures, tremors
AEDs if needed
Physical therapy for walking