29- hypotonia

Question 1

differential for newborn hypotonia

Answer 1

Down syndome

Benign neonatal hypotonia

Zellweger syndrome

Family resemblance

Question 2

does downs syndrome have upward or downward palpebral fissures

Answer 2

upward (normally down)

Question 3

what would be abnl in newborn screen for downs?

Answer 3

hypothyroidism

Question 4

test for in 1st ten years of down’s syn life

Answer 4

• thyroid levels
• vision
• hearing
• complete blood count in 1st month (myeloprolif dz)
• cardiologist
• annual Hgb and hct
• early intervention

Question 5

should you compare downs syn kids with standard growth charts

Answer 5

yes

Question 6

common cardiac problems in down syn

Answer 6

endocardial cushion defects (VSD, ASD, complete atrioventicular canal defect)

Question 7

trisomy 13 patau feature

Answer 7

Microphthalmia
Microcephaly
Severe intellectual disability
Polydactyly
Cleft lip and palate
Cardiac and renal defects
Umbilical hernias
Cutis aplasia

Question 8

edward’s trisomy 18

Answer 8

Micrognathia
Low-set ears
Short neck
Overlapping fingers
Heart defects
Renal malformations
Limited hip abduction
Rocker-bottom feet
severe ID