Boards Buzzworthy Flashcards
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
cornelia de lange
mode of inheritance
AD
protein folding defect
CF
imperforate anus with meconium from urethra
supralevator
location of fatal brain tumors
infratentorial
side effect of exchange transfusion
decrease platelet, Ca, Na
increase K
vit K deficiency coags
increase PT
eczema, recurrent infections
wiskott aldrich
XR
thrombocytopenia
lactoferrin MOA
decreased availability of free Fe
albinism
nystagmus
chediak-higashi
AR
abnormal neutrophil degranulation
LYST mutation
anemia
high retic
microspherocytes
increased MCV
vitamin E deficiency
bilirubin form that reabsorbs in large bowel
unconjugated bilirubin
thrombopoeitin:
decreased production vs destruction
High
vs
Low
chlamydia treatment
azithromycin
elevated ammonia
elevated glycine
non-ketotic hyperglycinemia
HICCUPS
EEG burst suppression
brachycephaly
Carpenter Syndrome
polydactyly
CHD
flaccid paralysis after difficult delivery
spinal cord injury
MRI
HIE changes
increased extracellular glutamate/lactate
decreased ATP
Diving reflex
brain
heart
adrenals
APGAR 0-3 at 5, 10, 20
1%
9%
57%
myotonic dystrophy inheritance
AD
expanded CTG repeats
lack of blinking
CN damage
CN VII
CN V- afferent
lateral eye deviation
seizures
unequal pupils
hemorrhage over convexities
HIE brain injury
selective neuronal necrosis
forceps with seizures
Subarachnoid hemorrhage
Doll’s Eye
CN III, VI
frog leg position
tongue fasciculation
SMA 1, AR
cerebellar vermis hypoplasia
cystic dilation of 4th ventricle
Dandy Walker
associated with hydrocephalus
selective neuronal necrosis
What cells are damaged
oligodendrocytes
TPN changes with renal insufficiency
DECREASE:
selenium
chromium
TPN changes with cholestasis
DECREASE:
manganese
copper
INCREASE:
zinc
essential fatty acids
linoleic
linolenic
preseve immune component of BM
freezing
optimal calcium requirement
150-200 mg/kg/day
optimal phos requirement
75-110 mg/kg/day
gluconeogenic AA
alanine
glutamine
aspartate
common cause of ascites
PUV
urinary tract blockage, hydronephrosis, thick walled bladder, oligohydramnios
stridor
weak cry
feeding problems
unilateral vocal cord paralysis
upper airway patency CN
CN IX
glossopharyngeal
iNO side effect
metHgb
narcan to babies of drug addicted mother
seizures
urgent eye exam
increased size of one pupil
milk protein allergy at 3 weeks
B-lactoglobulin
AA in breastmilk but not TPN
glutamate
aspartate
FA in TPN
linoleic acid
HSM
hypochromic anemia
osteopenia
copper deficiency
FA defect assoc with HELLP
LCHAD
candidal infection first symptom
thrombocytopenia
RNA polymerase recognizes _ to synthesize RNA
promoter
TSH increased at 12 hours of life
physiologic surge due to cold exposure
polydactyly
PCKD
encephalocele
Meckel-Gruber
fused eyelids
syndactyly
urogenital problems
Fraser
cutis aplasia
T13
CF testing
blot paper for increased IRT
Marfan
fibrillin defect
systemic/pulm HTN with LVH and systemic to pulmonary collateral
repaired coarct
chronic diuretic
metabolic alkalosis
Asian male with jaundice
deficiency glucoronyl transferase
Kernicterus eye
UPWARD gaze
protein accretion at 30 wks
3g/kg/day
n-3 FA essential
eye development
GIR 27 weeker
6-8
undescended testes
decreased DHT
5-alpha reductase
apoptotic damage with HIE
caspase
traumatic birth
distended scalp veins
eyelid edema
sagittal thrombosis
severe effects of CMV likelihood
10%
Down’s with skin nodules
leukemia
elevated WBC
PDA BP
widened pulse pressure
Turner’s CHD
bicuspid AV
coarctation
triploidy paternal
69 XXY
microcephaly
maternal progesterone
fetal virilization
ROM- blood
fetal tachycardia
vasa previa
decreased vit K clotting factors
warfarin
phenytoin
increase distribution across placenta
increase lipid content
enzyme deficiency in criglar-najjar
glucoronyl transferase
distal ileum/cecum absorption
bile acids
minor malformation %
12%
cat eye
extra part of chr 22
TAPVR
downward slant palpebral fissures
anal atresia
renal agensis
Turner’s
increased scoliosis
CF loss of what amino acid
phenylalanine on 507 ch 7
Mobius
b/l facial paresis 2/2 absence of nuclei 6 & 7
expressionless face
limb reduction
Poland sequence
Coloboma
micrognathia
scalp hair on cheek
Treacher Collins
microcephaly, abnormal cry
Cri du chat
chromosome 5 microdeletion of PATERNAL DNA
Toxo transmission
Early GA = lower transmission but more severe
CMV transmission
Early GA = higher transmission AND more severe
Tx gonococcal eye infection
1x ceftriaxone
sepsis
hyperbili
3 week old
galactosemia
E.coli sepsis
maternal varicella < 5d before delivery or < 2d after
isolate infant
give VZIG until maternal lesions crust over
vWF inheritance
AD
normal plt and PT
abnormal BT
pyruvate kinase D inheritance
AR
spherocytosis inheritance
AD
45 XO
47 XXY
increased risk of gonadoblastoma
(For turners if mosaic 46XY)
EPO production
liver > kidney at birth
elevated testosterone in XXX
aromatase deficiency
chylothoraxx fluid findings
high triglycerides
lymphocyte predominance
high protein
single umbilical arter
common in twins
1% in regular pregnancy
urogenital or cardiac
TGA
macrocephaly
triangular face
small arms
hypertelorism
vitamin A
non-immune hydrops fetalis
Cardiac 25%
L superior axis deviation
AV canal
tricuspid atresia
ASD
FA mature human milk
oleic acid
FT HC and length
HC = 35 cm
Length = 50cm
perinatal asphyxia activates
glycogenolysis
Chronic granulomatous disease test
NBT test
absent NADPH oxidase fxn in phagocytic cells
Sickle cell genetic defect
single nucleotide substitution
effect of PGE on kidney
increased renal blood flow
increase UOP
22q11 CHD
TOF
protein found in formula but not breastmilk
B lactoglobulin
cystic PVL
spastic diplegia
Neowrap
prevents evaporation losses
HCTZ
prevent calcium from being excreted and cause stones and elevated serum calcium
pupillary light reflexx
30-32 weeks
retinal development
26 weeks
absent anal wink
spinal cord lesion
parvovirus
affects erythrocyte progenitor cells = ANEMIA
parvo prevention
hand washing
myasthenia gravis treatment
anticholinesterase
PVL affects what cells
Pre- oligodendrocytes
Holt Oram
AD
ASD
abnormalities of bones of forearm
ABSENT thumbs
Congenital central hypoventilation
Hirschprungs
Neutropenia in Kostmann syndrome
treat with GCSF
cornelia de lange
AD
microcephaly
low set eats
clef
hypertrichosis
single nucleotide mutation in COHESION pathway
higher GER and malrotation incidence
inadequate intake with weight loss
hypernatremia
enzyme deficiency in breastmilk jaundice
beta glucuronidase
ECMO
hearing loss
warfarin
protein C deficiency
PTU - Graves disease
hydrops fetalis
HBF
resistant to alkali
purpura fulminans
protein C/S deficiency
athetoid CP
mixed tone
hearing and speech abnormalities
gross and fine motor affected
spastic diplegia
LE>UE
earliest finding in congenital glaucoma
enlarged cornea
crossed adductor disappears
8 months
most common cystic renal disease in newborn
MCDK
PDH complex inheritance
mitochondrial
SMA inheritance
AR
nonsense mutation in SMN1 on 5q13.2
neuroblastoma and liver mets
better prognosis than those without mets
syndromes with glaucoma
SW syndrome
NF
RB
homocystinuria
T21
rubella
stickler
corticosteroid exposure
completed optic myelination
24 months
hearing loss syndromes
alport
PR sequence
Waardenburg
TC
CHARGE
KF sequence
T8
T21
Stickler syndrome
prolonge dopamine use
reduced inotropic effect due to NE depletion
BLUNTS TSH
Epinephrine side effects
B2 effects
hyperglycemia
lactic acidosis
tachycardia
ductus arteriosus embryo
LEFT 6th aortic arch
persistent right umbilical vein
CHD
methadone
QTC prolongation
NBS thyroid
tests for elevated TSH
abnormal = > 40
TB treatment and breastfeeding
breastfeed after 2 weeks of treatment
RS/MAPK pathway
Noonan
NF
GNAS 1
McCune Albright
TMD associated T21
megakaryocytes
Tx with cytarabine
HFNC improves alveolar vent
dead space washout
reduced inspiration resistance
neutrophil gelatinase-associated lipocalin
AKI early marker
subclinical hypothyroid
Tx at 4-6 weeks if persistent
Increased neurodevelopmental outcomes
PDA tx
PDA ligation
sinusoidal FHR tracing
fetal anemia
metabolic bone disease
preterm infants
vitamin D 200-2400 IU
minimized aluminum as it disturbs normal bone formation
Crigler Najjar I
nonsense mutation
Crigler Najjar II
base substitutions coding regions
Gilbert
missense mutation
7 or more TA repeats
cold stress
NE release
vascoconstriction
Tuberous sclerosis
Cardiac rhabdomyoma
WPW
no embolic events
get better over time
do not enlarge spontaneously
CHD cat eye
TAPVR
CHD 22q11.2
interrupted aortic arch
CHD Holt Oram
ASD
CHD T13
VSD
CHD Ellis-van Creveld
common atrium
leukoreduced
decreases:
viral transmission
febrile nonhemolytic reactions
HLA alloimmunization
irradiation
reduces transfusion associated graft vs host
directed blood donation
transfusion assoc graft vs host
phentolamine
vasopressor extravasation
false positive galactosemia
G6PD deficiency
bloody emesis, epigastric distension and pain
gastric volvulus
Amphotericin B SE
hypokalemia
hypomagnesemia
hyponatremia
nephron and hepatotoxic
phenobarbital teratogen
cardiac
cognitive
orofacial
urogenital
carbamazepine teratogen
IUGR
developmental delay
microcephaly
cardiovascular
craniofacial
hypospadias
phenytoin teratogen
microcephaly, IUGR, short webbed neck, epicanthal folds, hypertelorism, oral clefts, malformed ears, hypoplastic phalynx, developmental delay, cardiac, GU, finger like thumbs
valproate
neural tube defects
cardia
GU- hypospadius
IUGR
ASD
cognitive impairment
skeletal anomalies
HIGHEST TERATOGEN POTENTIAL
small opacity lateral and inferior to pupil
Peter’s Anomaly
complete corneal opacity
form of anterior segment dysgensis
abnormal cleavage of the anterior chamber
sclerocornea is usually b/l
renal function post-op
dependent on pre-op Cr
Low Cr associated with higher rates AKI
candida invasion
associated with GI perf
AT, protein C/S
reduced at birth
prolonged QT associated with…
V tach
Holt Oram gene
TBX5-12q24
AD
Noonan gene
PTPN11
neonatal portal venous thrombosis
liver lobe atrophy > portal HTN
imprinting disease risk
increases with fertility treatments
calcium absorption
duodenum
phosphorus absorption
jejunum
salt poisoning
hypernatremia
FENa > 2%
normal renal fxn
Diandric triploidy
IUGR
Dygynic triploidy
macrocephaly
looping
sinut inversus
convergence
truncus arteriosus
double outlet RV
wedging
TOF
outflow tract anomalies
delamination abnormalities
valvular problems like Ebstein
premature death causes
increase in incidence of NEC
decrease in pulmonary related deaths
soy based lipid
low DHA and AA
fish oil based lipid
adequate DHA
Abdominal surgical disorders
systemic yeast in ELBW
MRI after HIE
diffusion weighted 2-5 d
hyperinsulinism with low glucose
low beta hydroxy
low FFA
high cortisol
high growth hormone
cost effectiveness
NNT
cost benefit
cash money
cost utility
QALY
premature EPO
The tissue oxygenation set point triggering production of hepatic-derived erythropoietin is lower than that for renal-derived erythropoietin, which causes a lower responsiveness to tissue hypoxia.
Fetal erythroid progenitors are relatively more sensitive to erythropoietin than adult progenitors. A lower plasma concentration of erythropoietin is able to stimulate sufficient erythropoiesis.
Erythropoietin clearance is 2 to 4 times faster in preterm infants compared with adults, contributing to relatively lower plasma erythropoietin concentrations
Walker Warburg Syndrome
AR
congenital muscular dystrophy
lissencephaly
hydrocephaly
retinal detachment
cataracts
microphthalmia
encephalocele
MR
seizures
Neuroblastoma
May regress on own
serial US monitoring
congenital cataracts and severe hypotonia in a male neonate with a family history of severe renal disease
oculocerebrorenal syndrome
Lowe syndrome
x linked cryptorchid
fever
hepatosplenomegaly
cytopenia
Hemophagocytic lymphohistiocytosis
profoundly elevated serum ferritin
low NK cells
fungemia risks
SIP > lines or prolonged abx
POMT2
Walker Warburg (lissencephaly, myotonic dystrophy)
L1cam
x-linked hydrocephalus
neonate with PVL
oligodendrocytes affected
CP from PVL
spastic diplegia
alagille
eye findings: posterior embryotoxin
heart: PPS
JAG-1 mutation
LCPUFA
affect retina and brain
bactericidal in breastmilk
secretory IgA
lactoferrin
colostrum ratio
whey:casein
80:20
mature milk ratio
whey:casein
55:45
Preterm formula ratio
whey:casein
80:20
formula higher in what compared to human milk
Na, Ca, K, Cl, Mg, Ph, amino acids
HIE = decreased ?
phosphocreatinine
baby or fetus with hiccups
non-ketotic hyperglycinemia