Childhood syndromes Flashcards
1
Q
Patau
A
microcephaly, micropthalmia
cleft lip/palate
polydactyly
2
Q
Edwards
A
micrognathia
low set eats
rocket bottom feet
overlapping fingers
3
Q
Fragile X
A
learning difficulty
macrocephaly
large ears
macro-orchidism
4
Q
Noonan
A
Webbed neck
pectus excavatum
short stature
pulmonary stenosis
5
Q
Pierre-Robin
A
Micrognathia
posterior displacement of tongue
cleft palate
6
Q
Prader-Willi
A
hypotonia
hypogonadism
obesity
7
Q
Williams
A
7q11 del. short stature learning difficulty friendly transient neonatal hypercalcaemia supravalvular aortic stenosis
8
Q
Cri du chat
A
5p del characteristic cry feeding difficulty and poor wt gain learning difficulty microcephaly and micrognathism hypertelorism
