Prader-Willi Syndrome Flashcards
1
Q
What is this describing?
Loss of paternal genes in long arm of chromosome 15. Classic triad of hypotonia, obesity, and hypogonadism.
A
Prader-Willi syndrome
2
Q
What is this a presentation of?
Infant, hypotonia, poor feeding, slow growth, excessive appetite leads to obesity, hypogonadism, short stature, almond-shaped eyes, thin upper lip, challenging behaviour, sleep disorders.
A
Prader-Willi syndrome
3
Q
How is Prader-Willi syndrome diagnosed?
A
FISH and PCR
4
Q
What is the management for Prader-Willi syndrome?
A
- Growth hormone
- Avoid excessive weight gain through exercise and limiting food.
- Life expectancy reduced due to obesity and gastric rupture.
