congenital defects Flashcards
diaphragmatic hernia
hole in diaphragm
bowel in chest
lung cant expand = hypoplastic
scaphoid abdomen
diaphragmatic hernia
where does diaphragmatic hernia usually occur?
left MC than right
back MC than lateral
diaphragmatic hernia dx
xray
diagphargmatic hernia tx
surgical
corticosteriods (dev. lung)
gastroschis/ omphalocele pathogenesis
gut comes out of baby twist goes back in
extrophy cc bladder
omphalacele with bladder involved
- wet with urine
- shiny and red
- no bowel
gastroschisis def
defect of bowel off to side right of midline
- angry nasty looking
omphalacele
- midline bowel protuding
- contained in a hernia sac
gastroschis/omphalacele
clinical dx
silo surgical procedure
extrophy of bladder dx
clinical
extrophy requires ___
surgical repair
biliary atresia sx
worsening jaundice at 7-14 days
direct hyperbilirubinemia
biliary atresia def
biliary ducts never made
bile cant get from liver to duodenum
biliary atresia diagnostic
- u/s no ducts
2. hida scan after 5-7 days of phenobarbital
treat biliary atresia
resect and fix
cleft lip / cleft palate
patho
- failure to grow
- failure to fuse
- soft, hard, palate, lip
- bilateral, unilateral, midline, superficial, deep etc
cleft lip / palate sx
FTT if feeding problem
recurrent infxn
cosmetic
cleft lip surgery timing
11-12 wks
palate surgery
11-12 months
Neural tube defects
patho: genetic disorders
folate deficiency
***mom should be on folate supplements prior to pregnancy!!
neural tube defects
dx NTD
quad screen elevated afp
u/s shows defect
NTD sx
tuft of hair
meningomyelocele
meningomyelocele
CSF and nerves protruding out posterior spine in skin sac
meningocele
just CSF protruding posterior spine in skin sac
spina abifida occulta
some posterior spine breakdown with skin surrounding segments, may only see tuft of hair
NTD also associated with…?
arnold malformation II
hydrocephalus
FND below lesion