Turner Syndrome Flashcards
(6 cards)
1
Q
Turner Syndrome etiology
A
- XO 45
missing partial or complete X chromosome [ Affect ONLY
Female
2
Q
CLOWNS mnemonic
A
-Cardiac anomaly
-Lymphoedema(first sign)
-Ovaries undeveloped (streaked,infertile)
-Webbed neck
-Nippiles widely spaced
-_ short stature
3
Q
most common cardiac anomaly
A
coA ,bicuspid aortic valve
coA: younge pt +chest pain ,BP in upper limps higher than lower limbs
absent radio femoral pulse
4
Q
why they are short ?
A
shox gene: normal growth and normal ovary function
5
Q
Other important Clinical feature (not in clown)
A
-EARS: Recurrent otitis media → Hearing loss - KIDNEYS: Horseshoe Kidney - ELBOW: Cubitus V
6
Q
intelligence in Turner ?
A
-normal intelligence
-< 10% intellectual disabilities
