Childhood syndromes Flashcards
1
Q
Edwards Syndrome - ROLS
A
Trisomy 18
Rocker bottom feet
Overlapping fingers
Low set ears
Small lower jaw (micrognathia)
2
Q
Patau Syndrome
A
Trisomy 13
Polydactly, Cleft lip/palate, Microcephaly, small eyes
3
Q
Fragile X
A
Macro-orchidism, large ears, macrocephaly
Big balls, big ears, big head
Long face
Learning difficulties
4
Q
Noonan
A
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
5
Q
Pierre Robbin is an MPC
A
Micrognathia
Posterior displacement of tongue - classic french dude
Cleft palate
6
Q
Prader Willi
A
HypoTonia
HypoGonadism
Obesity
GOT
7
Q
William’s syndrome
A
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Aortic stenosis
