paeds congenital Flashcards
1
Q
what is commonly seen in patau (trisomy 13)?
A
Microcephalic, small eyes Cleft lip/palate Polydactyly Scalp lesions
2
Q
What is commonly seen in Edward’s (18)
A
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
3
Q
what is commonly seen in fragile x?
A
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
4
Q
what is noonan syndrome?
A
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
5
Q
what is commonly seen in prader willi?
A
Hypotonia
Hypogonadism
Obesity
6
Q
what is commonly seen in williams syndrome?
A
Short stature Learning difficulties Friendly, extrovert personality Transient neonatal hypercalcaemia Supravalvular aortic stenosis
7
Q
which murmur is associated with turner syndrome?
A
ejection systolic due to bicuspid aortic valve
8
Q
what method of inheritance is prader willi?
A
imprinting
dad’s chromosome 15 missing
mother’s 15 is switched off
9
Q
can girls be affected with prader willi?
A
yes
