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Neo Board Review MAP > Buzz Words > Flashcards

Buzz Words Flashcards

1
Q

Salt and pepper retina

A

Rubella

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2
Q

Blue diaper syndrome

A

Abnormal intestinal tryptophan transport leading to blue urine

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3
Q

Alaskan Eskimo’s

A

Hepatitis B

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4
Q

Blueberry muffin rash

A

CMV and rubella

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5
Q

Slapped cheeks

A

Parvovirus B19

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6
Q

Celery stalking long bone

A

Rubella

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7
Q

3E sign

A

Coarctation of the aorta

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8
Q

Apple core/string sign

A

Pyloric stenosis

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9
Q

Banana/lemon sign on prenatal ultrasound

A

Myelomeningocele

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10
Q

Boggy placenta

A

Syphilis, congenital nephrotic syndrome

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11
Q

Boot Shaped heart

A

TOF

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12
Q

Cataracts and hepatomegaly

A

Galactosemia

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13
Q

Chocolate blood

A

Methemoglobinemia

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14
Q

Chocolate colored amniotic fluid

A

Listeria (meconium stained)

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15
Q

Cloverleaf skull deformity

A

Thanatophoric dysplasia
Pfeiffer syndrome
Crouzon syndrome

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16
Q

Cork screw on upper G.I.

A

Malrotation

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17
Q

Depakote

A

Neural tube defects and limb defects

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18
Q

Digoxin toxicity

A

Feeding intolerance, arrhythmia

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19
Q

Dive bomber EMG

A

Congenital myotonic dystrophy

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20
Q

Double bubble

A

Duodenal atresia

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21
Q

Egg on a string

A

TGA

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22
Q

Elevated urine succinylacetone

A

Tyrosinemia

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23
Q

Elfin facies

A

Williams syndrome

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24
Q

Expressionless facies

A

Mobius syndrome

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25
Q

Filling defects on barium enema

A

Meconium plug

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26
Q

Finnish or Amish with neutropenia

A

Cartilage-hair hypoplasia

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27
Q

Greek helmet facies

A

Wolf Hirschhorn syndrome

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28
Q

Heinz bodies

A

Denatured hemoglobin due to enzyme defect (i.e. G6PD)

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29
Q

Hockey stick palmar crease

A

Fetal alcohol syndrome

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30
Q

Howell jolly bodies

A

Asplenia

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31
Q

Male cat urine smell

A

3-methylcrotonyl glycinuria

AKA 3-methylcrotonyl-CoA carboxylase deficiency

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32
Q

Meckel-Gruber

A

Encephalocele

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33
Q

Mitten hands and feet

A

Apert syndrome

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34
Q

Mouse urine odor

A

PKU

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35
Q

Navajo Indian

A

Congenital methemoglobinemia

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36
Q

Northern European infant with anemia

A

Spherocytosis
Elliptocytosis
Pyruvate kinase deficiency

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37
Q

Patellar stippling

A

Zellweger’s syndrome

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38
Q

Pili Torti

A

Menke’s disease

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39
Q

Plucked chicken skin

A

Keratosis pilaris

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40
Q

Popcorn/snowflake intracranial calcifications

A

Toxoplasmosis

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41
Q

Retrograde aortic flow on echo

A

HLHS

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42
Q

Scimitar sign on chest x-ray

A

PAPVR with right PV draining into IVC

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43
Q

Seal bark cry

A

Tracheomalacia

Look for esophageal atresia

44
Q

Single bubble

A

Pyloric atresia

45
Q

Snowman sign

A

TAPVR

46
Q

Snuffles, saber shins, Hutchinson’s teeth

A

Congenital syphilis

47
Q

Stifled epiphysis

A

Coumadin

48
Q

Sweaty feet odor

A

Isovaleric acidemia

Glutaric aciduria type 2

49
Q

Testes at 12

A

5-alpha reductase deficiency

50
Q

Triple bubble

A

Jejunal or ileal atresia

51
Q

Ghost-like ribs, costochondral beading, enlarged heart

A

Poor bone mineralization (i.e. Vitamin D deficiency)

52
Q

Broad thumbs

A

Rubenstein-Taybi (chr 16p)

53
Q

Supravalvular, subaortic stenosis and hypoplastic nails

A

William syndrome (elastin gene)

54
Q

WAGR

A

Wilms
Aniridia
Genitourinary
Retardation

Chromosome 11p

55
Q

Trident hands

A

Achondroplasia

FGFR3 mutation (transmembrane)

56
Q

FGFR3 (intracellular tyrosine kinase)

A

Thanatophoric dysplasia

57
Q

FGFR2 mutation

A

Apert and Crouzon

58
Q

Linear earlobe fissure

A

Beckwith Wiedemann syndrome

59
Q

Upper limb defects

A

Holt Oram syndrome

60
Q

Dysplastic pulmonary valve, hypertrophic cardiomyopathy

A

Noonan syndrome

Chr 12q

61
Q

Blue sclera, wormian bones

A

OI type II > I > III

Defect in Collagen type 1

62
Q

Flat vertebrae

A

Stickler (collagen type 2)

Thanatophoric dysplasia

63
Q

Telephone receiver femurs

A

Thanatophoric Dysplasia

64
Q

White forelock, deaf

A

Waardenburg syndrome

65
Q

Lateral displacement of inner canthus

A

Carpenter syndrome

66
Q

Radius/thumb hypoplasia, hyperpigmentation, pancytopenia

A

Fanconi anemia

67
Q

2nd/3rd toe syndactyly, ambiguous genitalia, Anteverted nostrils

A

Smith-Lemli-Opitz syndrome

Elevated 7-Dehydrocholesterol

68
Q

Absent bilateral radii with thumbs Present, thrombocytopenia

A

TAR syndrome - thrombocytopenia absent radius

69
Q

Kinky hair, copper deficiency

A

Menkes

70
Q

Broad chest, wide spaced nipples

A

Turner syndrome

71
Q

Coloboma and anal atresia

A

Cat eye

22q duplication

72
Q

Synophrys (unibrow), micromelia, thin downturning lip

A

Cornelia de Lange

73
Q

Eye, ear, spine

A

Goldenhar Syndrome

74
Q

Hypotonia and Cryptorchidism

A

Prader Willi syndrome

75
Q

Fused cervical vertebrae

A

Klippel-Fiel

76
Q

Big vascular lesions & asymmetric limb hypertrophy

A

Klippel-Trenaunay-Webber

77
Q

Unilateral chest wall anomaly

A

Poland sequence

78
Q

Excessive sweating, small triangular faces, 5th finger clinodactyly

A

Russel silver syndrome

79
Q

Hiccups in utero/after birth

A

Nonketotic hyperglycinemia

80
Q

VOMITC

A 
Valine
Odd chain FA
Methionine
Isoleucine
Threonine
Cholesterol

All form propyonyl CoA


81
Q

Neonatal liver failure due to IEM

A

Galactosemia
Tyrosinemia
Fructose intolerance

82
Q

Urine GAGs

A

MPS type I

83
Q

Elevated CPK, urine acid elevated

A

FAO disorders

84
Q

Eye, brain, kidney

A

Lowe syndrome (x linked)

85
Q

Liver, brain, kidney

A

Zellweger syndrome

86
Q

Horseshoe kidney

A

Turner syndrome

87
Q

Small thoracic cage

A

Jeune Syndrome

88
Q

X-ray transition zone at splenic flexure

A

Microcolon

89
Q

X-ray transition zone at rectosigmoid

A

Hirschsprung disease

90
Q

CF like + Neutropenia

A

Shwachman-Diamond Syndrome

91
Q

Frontotemporal atrophy

A

Glutaric aciduria I

92
Q

Dysostosis multiplex

A

Mucopolysaccharidoses

93
Q

Foam cells in bone marrow

A

Niemann pick

94
Q

Cherry red spots

A

Tay-Sachs

Neiman-Pick

95
Q

Cystic PVL, low hydroxybutyrate/acetoacetate

A

Pyruvate carboxylase deficiency

96
Q

Dilated cardiomyopathy

A

Pompe disease

97
Q

KRIG

A

Kostman Syndrome
Recessive (autosomal)
Infections (neutropenia)
G-CSF (treatment)

98
Q

VACTERL

A 
Vertebral, tethered cord
Anal (atresia or imperforate anus)
Cardiac (VSD)
TE fistula
Renal
Limb
Hydrocephalus

Abnormal formation during the 4th week of gestation

99
Q

Mutations in cohesin pathway

A

Cornelia de Lange

100
Q

Bullous lesions after exposure to phototherapy

A

Congenital erythropoietic porphyria

101
Q

Hypoketotic hypoglycemia

A

Fatty acid oxidation disorders

102
Q

Metabolic acidosis with an anion gap

A

Organic acidemias

103
Q

No acidosis or hyperammonemia

A

Aminoacidopathies

104
Q

Hyperammonemia without acidosis

A

Urea cycle disorders

105
Q

Syncope and hearing loss

A

Concern for a long QT syndrome- Jervell and Lange-Nielsen

Neo Board Review MAP (18 decks)

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