Pediatrics Flashcards
blue/gray macules on presacral back/posterior thighs
Mongolian spots
firm, yellow-white papules/pustules w/ erythematous base, which peak on second day of life
erythema toxicum
permanent, unilateral vascular malformation on head and neck
port wine stain (nevus flammeus)
red, sharply demarcated, raised lesions appearing in first 2 months, rapidly expanding, then involuting by age 5-9 years
hemangioma
preauricular tags/pits
preauricular tags/pits
defect in iris
coloboma of iris
absence of iris
aniridia
mass lateral to midline
branchial cleft cyst
mass in MIDLINE that moves with swallowing or tongue protrusion
thyroglossal duct cyst
GI tract protrusion through umbilicus WITH SAC
omphalocele
abdominal defect lateral to midline WITHOUT SAC
gastroschisis
congenital weakness where vessels of fetal and infant umbilical cord exited through the rectus abdominis muscle
umbilical hernia
scrotal swelling, transillumination
hydrocele
unilateral absence of testes in scrotal sac
undescended testes
urethral opening on VENTRAL surface
hypospadias
urethral opening on DORSAL surface
epispadias
inguinal bulge or reducible scrotal swelling
inguinal hernia (usually INdirect)
- low Apgar scores
- blood stools
- apnea
- lethargy
- abdominal wall erythema and distention
necrotizing enterocolitis (NEC)
failure to pass meconium
Hirschsprung disease
hydrocephalus w/ generalized intracranial calcifications and chorioretinitis
toxoplasmosis
- cataracts, deafness, and heart defects
- blueberry muffin spots (extramedullary hematopoiesis)
rubella
- microcephaly w/ periventricular calcifications
- petechiae w/ thrombocytopenia
CMV
- first week: PNA/shock
- second week: skin vesicles, keratoconjunctivitis
- third week: acute meningoencephalitis
herpes
osteochondritis and periostitis; desquamating skin rash of palms and soles, snuffles (mucopurulent rhinitis)
syphilis
- neonatal: PNA
- congenital: limb hypoplasia, cutaneous scars, seizures, mental retardation
varicella
- drug teratogenesis
respiratory, CNS depression
- anesthetics
- barbiturates
- drug teratogenesis
respiratory depression
magnesium sulfate
- drug teratogenesis
vitamin K deficiency
phenobarbital
- drug teratogenesis
displaces bilirubin from albumin
sulfonamides
- drug teratogenesis
premature closure of ductus arteriosus
NSAID’s
- drug teratogenesis
craniofacial abnormalities
ACEI’s
- drug teratogenesis
- facial and ear anomalies
- congenital heart disease
isotretinoin
- drug teratogenesis
- hypoplastic nails
- typical facies
- IUGR
phenytoin
- drug teratogenesis
vaginal adenocarcinoma
diethylstilbestrol (DES)
- drug teratogenesis
- enamel hypoplasia
- discolored teeth
tetracycline
- drug teratogenesis
Ebstein’s anomaly
lithium
- drug teratogenesis
facial dysmorphism and chondrodysplasia
warfarin
- drug teratogenesis
- mental retardation
- NTD’s
- valproate
- carbamazepine
- upward slanting palpebral fissures
- speckling of iris (Brushfield spots)
- inner epicanthal folds
- small stature
- late fontanel closure
- mental retardation
trisomy 21 (Down syndrome)
- low-set, malformed ears
- microcephaly
- micrognathia
- clenched hand (index over 3rd; 5th over 4th)
- rocker bottom feet and hammer toe
- omphalocele
trisomy 18 (Edwards syndrome)
- defect of midface, eye, and forebrain development
- holoprosencephaly
- microcephaly
- microphthalmia
- cleft lip/palate
trisomy 13 (Patau syndrome)
- Wilms
- Aniridia
- GU anomalies
- mental Retardation
WAGR syndrome
- low IQ
- behavioral problems
- slim w/ long limbs
- gynecomastia
Klinefelter syndrome (XXY)
- small-stature female
- gonadal dysgenesis
- low IQ
- congenital lymphedema
- webbed posterior neck
- broad chest
- wide-spaced nipples
Turner syndrome (XO)
multiorgan enlargement:
- macrosomia
- macroglossia
- pancreatic beta cell hyperplasia (hypoglycemia)
- large kidneys
- neonatal polycythemia
Beckwith-Wiedemann syndrome
- obesity
- mental retardation
- binge eating
- small genitalia
Prader-Willi syndrome
- mental retardation
- inappropriate laughter
- absent speech or less than 6 words
- ataxia and jerky arm movements resembling a puppet gait
- recurrent seizures
Angelman syndrome
harsh holosystolic murmur over LLSB
VSD
loud S1, wide FIXED SPLITTING of S2
ASD
- wide pulse pressure
- bounding arterial pulses
- “machinery” to-and-fro murmur
- maternal rubella infection
patent ductus arteriosus (PDA)
EARLY systolic ejection CLICK at apex of LSB
aortic stenosis
BP higher in arms than legs
coarctation of aorta
most common CHD BEYOND infancy
tetralogy of Fallot
- most common cyanotic lesion presenting in the IMMEDIATE newborn period
transposition of great vessels (arteries)
- nonbilious projectile vomiting typically in first 6 weeks of life
- firm, mobile, 1-inch mass palpated in epigastrum
pyloric stenosis
most common form of congenital adrenal hyperplasia (CAH)
21-hydroxylase deficiency
- decreased production of cortisol
- increased ACTH
- adrenal hyperplasia
- shunting to androgen synthesis
- masculinization of external genitalia in females
21-hydroxylase deficiency
best INITIAL test for 21-hydroxylase deficiency
increased 17-OH progesterone
definitive diagnostic test for 21-hydroxylase deficiency
17-OH progesterone before and after an intravenous bolus of ACTH
treatment for lead poisoning when blood lead level is more than 15mcg/dL
refer to department of health
treatment for lead poisoning when blood lead level is more than 45mcg/dL
chelation
What are the dosages of erythromycin ointment and vitamin K to be given at birth?
.5% erythromycin ophthalmic ointment
1 mg of vitamin K IM
7 day old newborn has purulent discharge from both eyes. Culture reveals chlamydia trach. Tx?
erythromycin oral for 14 days
Teratogen associated with microcephaly, intellectual disability, smooth philtrum?
Fetal alcohol syndrome
Teratogen associated with grey baby syndrome?
chloramphenicol
Teratogen associated with phocomelia?
thalidomide
2 days of cough, congestion, eye redness followed by maculopapular rash with white-gray spots on buccal mucosa. Tx? Dx?
measles, supportive care, vit A
Immunodeficiency with recurrent bacterial infections after the age of 6 months?
X-linked agammaglobinulinemia
Immunodeficiency with recurrent sinopulmonary infections and anaphylactic reaction to blood transfusion?
IgA deficiency
Immunodeficiency with thymic aplasia and T cell defn and hypocalcemia?
DiGeorge
Immunodeficiency with severe recurrent infections by variety of organisms?
SCID
Immunodeficiency with thrombocytopenia, eczema, and recurrent infections?
Wiskott-Aldritch Syndrome
8 year old boy has gross hematuria and generalized edema. Elevated BP. UA shows RBCs, RBC casts and proteinuria with throat infection 3 weeks ago. Tx? Dx?
PSGN
tx–> supportive, Na/Cl restriction, diuretics
4 year old boy has difficulty climbing stairs and frequent falls. Uses hands to lift himself up. Prox muscle weakness and calf muscles hypertrophied; Medication for tx? and dx?
duchenne muscular dystrophy; glucocorticoids
