29- hypotonia Flashcards
1
Q
differential for newborn hypotonia
A
Down syndome
Benign neonatal hypotonia
Zellweger syndrome
Family resemblance
2
Q
does downs syndrome have upward or downward palpebral fissures
A
upward (normally down)
3
Q
what would be abnl in newborn screen for downs?
A
hypothyroidism
4
Q
test for in 1st ten years of down’s syn life
A
- thyroid levels
- vision
- hearing
- complete blood count in 1st month (myeloprolif dz)
- cardiologist
- annual Hgb and hct
- early intervention
5
Q
should you compare downs syn kids with standard growth charts
A
yes
6
Q
common cardiac problems in down syn
A
endocardial cushion defects (VSD, ASD, complete atrioventicular canal defect)
7
Q
trisomy 13 patau feature
A
Microphthalmia Microcephaly Severe intellectual disability Polydactyly Cleft lip and palate Cardiac and renal defects Umbilical hernias Cutis aplasia
8
Q
edward’s trisomy 18
A
Micrognathia Low-set ears Short neck Overlapping fingers Heart defects Renal malformations Limited hip abduction Rocker-bottom feet severe ID
