Buzz Words Flashcards
(105 cards)
1
Q
Salt and pepper retina
A
Rubella
2
Q
Blue diaper syndrome
A
Abnormal intestinal tryptophan transport leading to blue urine
3
Q
Alaskan Eskimo’s
A
Hepatitis B
4
Q
Blueberry muffin rash
A
CMV and rubella
5
Q
Slapped cheeks
A
Parvovirus B19
6
Q
Celery stalking long bone
A
Rubella
7
Q
3E sign
A
Coarctation of the aorta
8
Q
Apple core/string sign
A
Pyloric stenosis
9
Q
Banana/lemon sign on prenatal ultrasound
A
Myelomeningocele
10
Q
Boggy placenta
A
Syphilis, congenital nephrotic syndrome
11
Q
Boot Shaped heart
A
TOF
12
Q
Cataracts and hepatomegaly
A
Galactosemia
13
Q
Chocolate blood
A
Methemoglobinemia
14
Q
Chocolate colored amniotic fluid
A
Listeria (meconium stained)
15
Q
Cloverleaf skull deformity
A
Thanatophoric dysplasia
Pfeiffer syndrome
Crouzon syndrome
16
Q
Cork screw on upper G.I.
A
Malrotation
17
Q
Depakote
A
Neural tube defects and limb defects
18
Q
Digoxin toxicity
A
Feeding intolerance, arrhythmia
19
Q
Dive bomber EMG
A
Congenital myotonic dystrophy
20
Q
Double bubble
A
Duodenal atresia
21
Q
Egg on a string
A
TGA
22
Q
Elevated urine succinylacetone
A
Tyrosinemia
23
Q
Elfin facies
A
Williams syndrome
24
Q
Expressionless facies
A
Mobius syndrome
25
Filling defects on barium enema
Meconium plug
26
Finnish or Amish with neutropenia
Cartilage-hair hypoplasia
27
Greek helmet facies
Wolf Hirschhorn syndrome
28
Heinz bodies
Denatured hemoglobin due to enzyme defect (i.e. G6PD)
29
Hockey stick palmar crease
Fetal alcohol syndrome
30
Howell jolly bodies
Asplenia
31
Male cat urine smell
3-methylcrotonyl glycinuria
| AKA 3-methylcrotonyl-CoA carboxylase deficiency
32
Meckel-Gruber
Encephalocele
33
Mitten hands and feet
Apert syndrome
34
Mouse urine odor
PKU
35
Navajo Indian
Congenital methemoglobinemia
36
Northern European infant with anemia
Spherocytosis
Elliptocytosis
Pyruvate kinase deficiency
37
Patellar stippling
Zellweger’s syndrome
38
Pili Torti
Menke’s disease
39
Plucked chicken skin
Keratosis pilaris
40
Popcorn/snowflake intracranial calcifications
Toxoplasmosis
41
Retrograde aortic flow on echo
HLHS
42
Scimitar sign on chest x-ray
PAPVR with right PV draining into IVC
43
Seal bark cry
Tracheomalacia
| Look for esophageal atresia
44
Single bubble
Pyloric atresia
45
Snowman sign
TAPVR
46
Snuffles, saber shins, Hutchinson’s teeth
Congenital syphilis
47
Stifled epiphysis
Coumadin
48
Sweaty feet odor
Isovaleric acidemia
| Glutaric aciduria type 2
49
Testes at 12
5-alpha reductase deficiency
50
Triple bubble
Jejunal or ileal atresia
51
Ghost-like ribs, costochondral beading, enlarged heart
Poor bone mineralization (i.e. Vitamin D deficiency)
52
Broad thumbs
Rubenstein-Taybi (chr 16p)
53
Supravalvular, subaortic stenosis and hypoplastic nails
William syndrome (elastin gene)
54
WAGR
Wilms
Aniridia
Genitourinary
Retardation
Chromosome 11p
55
Trident hands
Achondroplasia
FGFR3 mutation (transmembrane)
56
FGFR3 (intracellular tyrosine kinase)
Thanatophoric dysplasia
57
FGFR2 mutation
Apert and Crouzon
58
Linear earlobe fissure
Beckwith Wiedemann syndrome
59
Upper limb defects
Holt Oram syndrome
60
Dysplastic pulmonary valve, hypertrophic cardiomyopathy
Noonan syndrome
| Chr 12q
61
Blue sclera, wormian bones
OI type II > I > III
| Defect in Collagen type 1
62
Flat vertebrae
Stickler (collagen type 2)
| Thanatophoric dysplasia
63
Telephone receiver femurs
Thanatophoric Dysplasia
64
White forelock, deaf
Waardenburg syndrome
65
Lateral displacement of inner canthus
Carpenter syndrome
66
Radius/thumb hypoplasia, hyperpigmentation, pancytopenia
Fanconi anemia
67
2nd/3rd toe syndactyly, ambiguous genitalia, Anteverted nostrils
Smith-Lemli-Opitz syndrome
| Elevated 7-Dehydrocholesterol
68
Absent bilateral radii with thumbs Present, thrombocytopenia
TAR syndrome - thrombocytopenia absent radius
69
Kinky hair, copper deficiency
Menkes
70
Broad chest, wide spaced nipples
Turner syndrome
71
Coloboma and anal atresia
Cat eye
| 22q duplication
72
Synophrys (unibrow), micromelia, thin downturning lip
Cornelia de Lange
73
Eye, ear, spine
Goldenhar Syndrome
74
Hypotonia and Cryptorchidism
Prader Willi syndrome
75
Fused cervical vertebrae
Klippel-Fiel
76
Big vascular lesions & asymmetric limb hypertrophy
Klippel-Trenaunay-Webber
77
Unilateral chest wall anomaly
Poland sequence
78
Excessive sweating, small triangular faces, 5th finger clinodactyly
Russel silver syndrome
79
Hiccups in utero/after birth
Nonketotic hyperglycinemia
80
VOMITC
```
Valine
Odd chain FA
Methionine
Isoleucine
Threonine
Cholesterol
```
All form propyonyl CoA

81
Neonatal liver failure due to IEM
Galactosemia
Tyrosinemia
Fructose intolerance
82
Urine GAGs
MPS type I
83
Elevated CPK, urine acid elevated
FAO disorders
84
Eye, brain, kidney
Lowe syndrome (x linked)
85
Liver, brain, kidney
Zellweger syndrome
86
Horseshoe kidney
Turner syndrome
87
Small thoracic cage
Jeune Syndrome
88
X-ray transition zone at splenic flexure
Microcolon
89
X-ray transition zone at rectosigmoid
Hirschsprung disease
90
CF like + Neutropenia
Shwachman-Diamond Syndrome
91
Frontotemporal atrophy
Glutaric aciduria I
92
Dysostosis multiplex
Mucopolysaccharidoses
93
Foam cells in bone marrow
Niemann pick
94
Cherry red spots
Tay-Sachs
| Neiman-Pick
95
Cystic PVL, low hydroxybutyrate/acetoacetate
Pyruvate carboxylase deficiency
96
Dilated cardiomyopathy
Pompe disease
97
KRIG
Kostman Syndrome
Recessive (autosomal)
Infections (neutropenia)
G-CSF (treatment)
98
VACTERL
```
Vertebral, tethered cord
Anal (atresia or imperforate anus)
Cardiac (VSD)
TE fistula
Renal
Limb
Hydrocephalus
```
Abnormal formation during the 4th week of gestation
99
Mutations in cohesin pathway
Cornelia de Lange
100
Bullous lesions after exposure to phototherapy
Congenital erythropoietic porphyria
101
Hypoketotic hypoglycemia
Fatty acid oxidation disorders
102
Metabolic acidosis with an anion gap
Organic acidemias
103
No acidosis or hyperammonemia
Aminoacidopathies
104
Hyperammonemia without acidosis
Urea cycle disorders
105
Syncope and hearing loss
Concern for a long QT syndrome- Jervell and Lange-Nielsen
