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Edward's Syndrome (trisomy 18), Similarities, Patau Syndrome (trisomy…
Edward's Syndrome (trisomy 18)
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Clinical Features:
prominent occiput
short palprebal fissures
clenched hands with overlapping 2nd and 5th digits
eye abnormalities
microphthalmia
cyclopia
holoprosencephaly
cleft palate
polydactyly
sloping forehead
cutis aplasia
midline facial anomalies
Similarities
Clinical Features:
SGA
microcephaly
micrognathia
abnormal low set ears
rocker bottom feet
Associations:
congenital cardiac defects
VSD
PDA
dextroposition
ASD
GI anomalies
malrotation
Meckle's diverticulum
omphalocele
renal problems
horseshoe kidney
cystic kidney
intellectual delay
screenings
1st trimester
:arrow_down: PAPP-A
:arrow_down: b-HCG
2nd trimester
all analytes low
karyotype to confirm
risk factors
advanced maternal age
caused by meiotic non-dysjunction (not really mosaicism/translocation)
most infants don't survive past the first month of life, only about 10% for first year
Patau Syndrome (trisomy 13)
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Edward's and Pat Syndromes
<- this is questionable rn sketchy said one thing and first aid said another