Key word associations

Question 1

Christmas tree cataracts

Answer 1

Myotonic dystrophy

Question 2

Salt and pepper retinopathy

Answer 2

Rubella

Question 3

Celery stalk bones

Answer 3

Rubella

Question 4

String sign

Answer 4

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

Question 5

Corkscrew proximal jejunum

Answer 5

malro

Question 6

Triple bubble

Answer 6

jejuno-ileal atresia

Question 7

thumb sized loop of bowel or rule of thumb

Answer 7

jejuno-ileal atresia

Question 8

poor urine stream

Answer 8

posterior urethral valves

Question 9

increased anion gap acidosis

Answer 9

sepsis, organic acidemia

Question 10

normal anion gap acidosis

Answer 10

RTA, diarrhea

Question 11

seborrhea behind ears

Answer 11

chronic granulomatous disease

Question 12

generalized seborrhea

Answer 12

LCH, T-cell deficiencies

Question 13

nose tip dermatitis/eczema

Answer 13

chronic granulomatous disease

Question 14

rachitic rosary (two things)

Answer 14

rickets or SCID

Question 15

nocardia or aspergillus (or catalase + organism)

Answer 15

chronic granulomatous disease

Question 16

burkholderia

Answer 16

chronic granulomatous disease

Question 17

recurrent neisseria

Answer 17

terminal complement deficiency

Question 18

gingivostomatitis

Answer 18

neutrophil abnormalities

Question 19

recurrent strep pneumo

Answer 19

asplenia, agammaglobinulinemia, Kartagener’s, hemoglobinopathy

Question 20

posterior embryotoxin

Answer 20

Alagille’s

Question 21

unusually long fingers

Answer 21

Marfan syndrome, Homocystinuria

Question 22

ear drainage

Answer 22

TB

Question 23

boggy or plaque-like placenta with lymphocytic infiltration

Answer 23

syphilis or CMV (squishy = syph/CMV)

Question 24

bitemporal wasting:

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

Answer 24

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

Question 25

Almond shaped palpebral fissures

Answer 25

Prader-Willi

Question 26

ataxia and jerking, and widely spaced teeth

Answer 26

Angelman

Question 27

abnormal distribution of fat, inverted nipples, strabismus

Answer 27

disorder of glycosylation

Question 28

sagging lips and steely hair

Answer 28

Menke's

Question 29

mother's with a firm handshake

Answer 29

myotonic dystrophy

Question 30

tongue fasciculations

Answer 30

SMA type I

Question 31

epibulbar dermoids

Answer 31

goldenhar

Question 32

deeply set eyes

Answer 32

Alagille's

Question 33

crinkled paper cytoplasm

Answer 33

Gaucher's

Question 34

prominent ears

Answer 34

fragile X

Question 35

retinal vascular hamartomas

Answer 35

von hippel lindau

Question 36

foam cells

Answer 36

Niemann Pick (sphingomyelinase deficiency)

Question 37

aniridia

Answer 37

Wilms tumor - get a renal ultrasound

Question 38

plaques on umbilical cord (2 things)

Answer 38

listeria or candida

Question 39

tented or carp-like upper lip

Answer 39

myotonic dystrophy

Question 40

banana sign and lemon sign

Answer 40

both a/w myelomeningocele - ``` lemon sign (notching of frontal bones) banana sign (deformed cerebellar hemisphere) ```

Question 41

greek warrior helmet facies

Answer 41

wolf-hirschhorn (4p-)

Question 42

colpocephaly

Answer 42

agenesis of corpus collosum

Question 43

retinitis and encephalitis

Answer 43

HSV

Question 44

sweaty feet

Answer 44

isovaleric acidemia

Question 45

ear drainage

Answer 45

TB

Question 46

Redundant skin

Answer 46

Thanatophoric dysplasia