congenital defects Flashcards

1
Q

diaphragmatic hernia

A

hole in diaphragm

bowel in chest

lung cant expand = hypoplastic

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2
Q

scaphoid abdomen

A

diaphragmatic hernia

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3
Q

where does diaphragmatic hernia usually occur?

A

left MC than right

back MC than lateral

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4
Q

diaphragmatic hernia dx

A

xray

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5
Q

diagphargmatic hernia tx

A

surgical

corticosteriods (dev. lung)

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6
Q

gastroschis/ omphalocele pathogenesis

A

gut comes out of baby twist goes back in

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7
Q

extrophy cc bladder

A

omphalacele with bladder involved

  • wet with urine
  • shiny and red
  • no bowel
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8
Q

gastroschisis def

A

defect of bowel off to side right of midline

  • angry nasty looking
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9
Q

omphalacele

A
  • midline bowel protuding

- contained in a hernia sac

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10
Q

gastroschis/omphalacele

A

clinical dx

silo surgical procedure

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11
Q

extrophy of bladder dx

A

clinical

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12
Q

extrophy requires ___

A

surgical repair

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13
Q

biliary atresia sx

A

worsening jaundice at 7-14 days

direct hyperbilirubinemia

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14
Q

biliary atresia def

A

biliary ducts never made

bile cant get from liver to duodenum

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15
Q

biliary atresia diagnostic

A
  1. u/s no ducts

2. hida scan after 5-7 days of phenobarbital

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16
Q

treat biliary atresia

A

resect and fix

17
Q

cleft lip / cleft palate

patho

A
  • failure to grow
  • failure to fuse
  • soft, hard, palate, lip
  • bilateral, unilateral, midline, superficial, deep etc
18
Q

cleft lip / palate sx

A

FTT if feeding problem

recurrent infxn

cosmetic

19
Q

cleft lip surgery timing

A

11-12 wks

20
Q

palate surgery

A

11-12 months

21
Q

Neural tube defects

A

patho: genetic disorders

folate deficiency

22
Q

***mom should be on folate supplements prior to pregnancy!!

A

neural tube defects

23
Q

dx NTD

A

quad screen elevated afp

u/s shows defect

24
Q

NTD sx

A

tuft of hair

meningomyelocele

25
Q

meningomyelocele

A

CSF and nerves protruding out posterior spine in skin sac

26
Q

meningocele

A

just CSF protruding posterior spine in skin sac

27
Q

spina abifida occulta

A

some posterior spine breakdown with skin surrounding segments, may only see tuft of hair

28
Q

NTD also associated with…?

A

arnold malformation II

hydrocephalus

FND below lesion