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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly