Key word associations Flashcards

1
Q

Christmas tree cataracts

A

Myotonic dystrophy

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2
Q

Salt and pepper retinopathy

A

Rubella

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3
Q

Celery stalk bones

A

Rubella

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4
Q

String sign

A

Pyloric stenosis (also known as apple core or railroad track sign)

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5
Q

Corkscrew proximal jejunum

A

malro

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6
Q

Triple bubble

A

jejuno-ileal atresia

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7
Q

thumb sized loop of bowel or rule of thumb

A

jejuno-ileal atresia

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8
Q

poor urine stream

A

posterior urethral valves

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9
Q

increased anion gap acidosis

A

sepsis, organic acidemia

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10
Q

normal anion gap acidosis

A

RTA, diarrhea

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11
Q

seborrhea behind ears

A

chronic granulomatous disease

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12
Q

generalized seborrhea

A

LCH, T-cell deficiencies

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13
Q

nose tip dermatitis/eczema

A

chronic granulomatous disease

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14
Q

rachitic rosary (two things)

A

rickets or SCID

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15
Q

nocardia or aspergillus (or catalase + organism)

A

chronic granulomatous disease

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16
Q

burkholderia

A

chronic granulomatous disease

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17
Q

recurrent neisseria

A

terminal complement deficiency

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18
Q

gingivostomatitis

A

neutrophil abnormalities

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19
Q

recurrent strep pneumo

A

asplenia, agammaglobinulinemia, Kartagener’s, hemoglobinopathy

20
Q

posterior embryotoxin

A

Alagille’s

21
Q

unusually long fingers

A

Marfan syndrome, Homocystinuria

22
Q

ear drainage

A

TB

23
Q

boggy or plaque-like placenta with lymphocytic infiltration

A

syphilis or CMV (squishy = syph/CMV)

24
Q

bitemporal wasting:

  • with cryptorchidism
  • with unusual irises or cardiac problem
  • with mother’s symptoms
A

with cryptorchidism - Prader-Willi
with unusual irises - Williams
with mother’s symptoms - myotonic dystrophy

25
Q

Almond shaped palpebral fissures

A

Prader-Willi

26
Q

ataxia and jerking, and widely spaced teeth

A

Angelman

27
Q

abnormal distribution of fat, inverted nipples, strabismus

A

disorder of glycosylation

28
Q

sagging lips and steely hair

A

Menke’s

29
Q

mother’s with a firm handshake

A

myotonic dystrophy

30
Q

tongue fasciculations

A

SMA type I

31
Q

epibulbar dermoids

A

goldenhar

32
Q

deeply set eyes

A

Alagille’s

33
Q

crinkled paper cytoplasm

A

Gaucher’s

34
Q

prominent ears

A

fragile X

35
Q

retinal vascular hamartomas

A

von hippel lindau

36
Q

foam cells

A

Niemann Pick (sphingomyelinase deficiency)

37
Q

aniridia

A

Wilms tumor - get a renal ultrasound

38
Q

plaques on umbilical cord (2 things)

A

listeria or candida

39
Q

tented or carp-like upper lip

A

myotonic dystrophy

40
Q

banana sign and lemon sign

A

both a/w myelomeningocele -

lemon sign (notching of frontal bones) 
banana sign (deformed cerebellar hemisphere)
41
Q

greek warrior helmet facies

A

wolf-hirschhorn (4p-)

42
Q

colpocephaly

A

agenesis of corpus collosum

43
Q

retinitis and encephalitis

A

HSV

44
Q

sweaty feet

A

isovaleric acidemia

45
Q

ear drainage

A

TB

46
Q

Redundant skin

A

Thanatophoric dysplasia