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salt and pepper retina
rubella
blue diaper syndrome
abnormal intestinal tryptophan transport –> blue urine
alaskan eskimos
Hep B
Blueberry muffin
CMV
Slapped cheeks
Parvo B19
Celery stalking long bone
Rubella
popcorn-snowflake intracranial calcifications
toxo
plucked chicken skin
ketosis pilaris
greek helmet facies
Wolf Hirschhorn
mitten hands/feet
Aperts
Cloverleaf skull
Thanatophoric dysplasia
Pfeiffer
Pilli torti
Menke’s disease
Testes at “12”
5 alpha reductase deficiency
seal bark cry, tracheomalacia
look for esophageal atresia
stippled epiphyses
coumadin
hockey stick palmar crease
fetal EtOH
patellar stippling
Popliteal area calcifications (chondrodysplasia punctate)
Zellweger’s
snuffles, saber shins, Hutchinson’s teeth
Syphilis
single bubble
pyloric atresia
double bubble
duodenal atresia
triple bubble
jejunal or ilial atresia
filling defects on barium enema
meconium plug
Northern European mother
Infant with: anemia-sphero/elliptocytosis
pyruvate kinase deficiency
Navajo Indian
Congenital Met Hgb
chocolate blood
met Hgb
chocolate colored amniotic fluid
listeria
Finnish or Amish, neutropenia
Cartilage-hair-hypoplasia
Depakote
Neural tube defects
limb defects
Dig toxicity
feeding intolerance
any arrhythmia
BOGGY placenta
syphilis
congenital nephrotic syndrome
Scimitar
PAPVR with R PV draining into IVC
3/E sign
coarctation
Howell-Jolly bodies
no spleen
Need encapsulated immunizations
Heinz bodies
denatured Hgb–> enzyme defect
banana/lemon sign on prenatal US
meningomyelocele
mouse urine odor
PKU
sweaty feet
isovaleric acidemia
glutaric aciduria type 2
urine succinylacetone elevated
tyrosinemia
male cat urine smell
Beta-methylcrotonyl glycinuria
Meckel-Gruber
Encephalocele
Dive bomber EMG
congenital myotonic dystrophy
Corkscrew upper GI
malrotation
Elfin facies
WILLIAMS
supravalvular aortic stenosis
expressionless facies
Mobius
cataracts and hepatomegaly
galatosemia
retrograde aortic flow on echo
HLHS
snowman
TAPVR
Boot
TOF
Egg
TGA
Swollen feet
Turner’s
Maternal fatty liver
baby with LCHAD
fetal bradycardia
maternal lupus
baby or fetus with hiccups
non-ketotic hyperglycinemia
Baby bleeding with normal coags
Factor 13 deficiency
low TREC on newborn screen
DiGeorge or SCID
LCPUFA affects?
retina
brain
OTC
high orotic acid
Intracellular dipplococci
Neisseria
Perinuclear vacuolization
Owl’s eye inclusion bodies
CMV
Christmas tree cataract
Myotonic dystrophy
Congenital cataract
Rubella
Pyloric stenosis
Junctional EB
Eosinophil on smear
E. Tox
Tzank smear with multinucleated giant cells
HSV
placenta with microabscesses, nodules
Listeria
MSUD
thiamine = vit B1
homocystinuria
pyridoxine = vit B6
tyrosinemia
vit c
MMA
methylmalonic acidemia
B12 = cobalamin
glutaric aciduria T2
riboflavin = vit B2
carboxylase synthase deficiency
biotin
component of BM affected by freezing
fat
GA increases lung compliance
increased surfactant
increased airway septation
2.5 to 3.0 ETT
decrease time constant
resistance x compliance
iNO use
decreased ECMO
placental glucose transport
facilitated diffusion
AA transport
ACTIVE transport
inflammatory fetal response
funisitis
antiphospholipid syndrome
microcephaly
rubella heart disease
PDA, PPS
tension pneumo
decreased BP
increased HR
neonate feeding difficulties and wheezing
double aortic arch
MCC vascular ring
gag reflex
CN 9 & 10
arthrogryposis
SMA
congenital myotonic dystrophy
prader willi test
DNA methylation
small foramen magnum
achondroplasia
translation template
mRNA
major malformation incidence
2-3/100
untreated PKU
microcephaly
gram + rods
listeria
desquamation of hands and soles
syphilis
HIV/SCID (T Cell defect) susceptible to?
mycobacterium TB
SSSS med contraindicated
steriods
congenital candidiasis treatment
amphotericin
newborn with ESBL Klebsiella
why?
excessive cephalosporin use
Ig not involved in immune protection
IgD
Tall peaked T waves
Hyperkalemia
TPN/IL with rising triglycerides
why?
lack of lecithin acyl
essential amino acids
PVT TIM HALL
fat content foremilk vs hind milk
higher in hind
protein content premature vs term BM
higher in preterm
short gut, starting enteral feeds
add fat soluble vitamins
renal flank mass, thrombocytopenia, hematuria
renal vein thrombosis
pituitary adenoma
SIADH
metabolism of caffeine
liver cytochrome
heparin overdose tx
protamine sulfate
vitamin A overdose
test LFTs
CP after HIE
spastic quadriplegia
parasaggital cerebral injury
shoulder girdle injury
Low T4 and normal TSH
Low TBG
sick euthyroid
seizure with tumor
teratoma
astrocytoma?
hemangioma and thrombocytopenia
Kassabach-Merritt
PDA ligation complication
vocal cord paralysis
decrease the rate of IVH
prenatal steroids
NAIT plt count and MCV
LOW plt
HIGH MCV
Fanconi electrolytes
Low phos, Na Ca K, protein
Hyperbili developmental abnormality
choreoathetoid movements
hypogonad, hypopit eye exam
SOD- optic atrophy
maternal history of venous thrombosis and infant with necrotic skin lesion
purpura fulminans
protein C deficiency
TEF with scaphoid abdomen
Types I and II
anti-hypertension med causing oliguria
captopril
No corneal reflex
cranial nerve?
CN V
Hyperbili affected brain areas
basal ganglia, globus pallidus
HOCM CHF tx
beta blocker
Alagille
AD
PPS
xanthoma
paucity of intrahepatic bile duct
FGFR2- craniosynostosis
Apert (syndactyly) and Crouzon
fetal SVT tx
digoxin
neonatal SVT tx
adenosine
synchronized cardioversion
EEG pattern with worst prognosis
burst suppression
jxnal epidermolysis bullosa and vomiting
pyloric stenosis
LGA baby with CHD
TGA
PGE side effects
fever
apnea
bradycardia
hypotension
cortical hyperostosis
Noonan CHD
pulmonic stenosis
cardiomyopathy
William’s CHD
supravalvular AS
CHD post op HTN tx
nitroprusside
can cause cyanoide poisoning
Low BW hormone
decreased IGF
Hyperinsulinism treatment
diazoxide
risk of pulmonary HTN
TTTS, placentation
Mono-di
IUGR cause in developed countries
HTN
PPHN maternal drugs
SSRI, aspirin, indomethacin
breastfeeding contraindications
lithium
chemo
HTCLV
breast HSV
street drugs
HIV (although in real life, not so much anymore)
translated protein to properly functioning
folding
Zellweger’s
increase VLCFA, peroxisome abnormality
high forehead
wide AF
seizures, hypotonia
PCKD
stippled epiphysis
hearing loss
cataracts
glaucoma
AR
linnear inflammatory vesicles
seizures
spastic paralysis
incontinenti pigmenti
XD
syndactyly
cryptorchidism
microcephaly
smith-lemli-opitz
low cholesterol levels
elevated 7 dehydrocholesterol
white forelock
waardenburg
deafness