Board Buzz Words Flashcards

1
Q

Salt and pepper retina

A

Rubella or Syphillis

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2
Q

Blue diaper syndrome

A

Abnormal intestinal tryptophan transport

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3
Q

Alaskan Eskimos

A

Hepatits B

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4
Q

Blueberry muffin

A

CMV

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5
Q

Slapped cheeks

A

Parvovirus B19

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6
Q

Popcorn or snowflake intracranial calcifications

A

Toxoplasmosis

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7
Q

Plucked chicken skin

A

Ketosis Pilaris

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8
Q

Greek helmet facies

A

Wolf Hirschorn

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9
Q

Mitten hands/feet

A

Aperts syndrome

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10
Q

Cloverleaf skull

A

Thanatophoric dysplasia
Pfeiffer
Crouzon

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11
Q

Pili torti

A

Menkes disease

Pili torti - thin hair

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12
Q

Testes at “12”

A

5 alpha reductase deficiency

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13
Q

Seal bark cry

A

Tracheomalacia

Look for esophageal atresia

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14
Q

Stippled epiphyses

A

Coumadin

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15
Q

Hockey stick palmar crease

A

Fetal alcohol

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16
Q

Patellar stippling

A

Zellwegger’s

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17
Q

Snuffles

A

Syphilis

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18
Q

Saber shins

A

Syphillis

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19
Q

Hutchinson’s teeth

A

Syphillis

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20
Q

Single bubble

A

Pyloric atresia

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21
Q

Double bubble

A

Duodenal atrsia

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22
Q

Triple bubble

A

Jejunal or ileal atresia

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23
Q

Apple core sign

A

Pyloric stnosis

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24
Q

String sign

A

Pyloric stenosis

25
Q

Filling defects on barium enema

A

Meconium plug

26
Q

Northern European mother with anemia and sphere/elliptocytosis

A

Pyruvat kinase deficiency

27
Q

Navajo indian

A

Congenital methemoglobin

28
Q

chocolate blood

A

MetHb

29
Q

Chocolate colored amniotic fluid

A

Listeria

30
Q

Finish or amish and neutropenia

A

Cartilage hair hypoplasia

31
Q

Depakote

A

NTD and limb defects

32
Q

Digoxin toxicity

A

feeding intolerance, any arrhythmia

33
Q

E-sign

A

coarctation

34
Q

snowman

A

TAPVR

35
Q

Boot

A

TOF

36
Q

Egg

A

TGA

37
Q

Howell jolly bodies

A

asplenia

38
Q

Heinz bodies

A

Denatured hb enzyme defect

ie. g6pd, alpha thalassemia, nadph deficiency

39
Q

banana sign on prenatal ultrasound

A

myelomeningocele, chiari 2 malformation

40
Q

lemon sign on prenatal ultrasound

A

meningomyelocele

41
Q

male cat urine smell

A

beta methylcrotonyl glycinuria

42
Q

Meckel gruber

A

encaphalocele

43
Q

dive bomber EMG

A

congenital myotonic dystrophy

44
Q

Corkscrew upper GI

A

Volvulus/ Malrotation

45
Q

Lithium

A

Ebstein’s

46
Q

Elfin facies

A

William’s syndrome

47
Q

Expressionless facies

A

Mobius

48
Q

Cataracts and hepatomegaly

A

Galactosemia

49
Q

Retrograde aortic flow on echo

A

HLH

50
Q

Figure 3 sign

A

Coarctation

51
Q

Chiari type 2 malformation

A

Myelomeningocele

52
Q

Watery to purulent discharge

A

Chlamydia

53
Q

Yellow crusting on eye

A

GBS

54
Q

Hypsarrhythmia

A

Infantile myotonic spasms

typically observed >2months

55
Q

Raised Holman index

A

EFAD (Essential fatty acid deficiency)

56
Q

Large placenta

A

Congenital nephrotic syndrome

57
Q

Snowstorm appearance on ultrasound

A

ARPKD

58
Q

Raccoon eyes

A

Neuroblastoma

59
Q

Amish and anemia

A

Pyruvate kinase deficiency