Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/62

Click to flip

62 Cards in this Set

  • Front
  • Back
X% of birth defects due to environmental factors
10%
teratogens: groupings
1.infections
2.radiation
3.maternal metabolic disorders
4.mechanical forces
5.drugs
teratogen exposure at <12 wks
organogenesis
tissue morphogenesis
teratogen exposure > 12 wks
retards fetal growth
CNS development effect
most common maternal metabolic disorder = teratogen
diabetes mellitus
variable expressivity/penetrance: seen usually in what mode of inheritance
autosomal dominant
variable expressivity/penetrance
varying degree of severity
defect in...
autosomal recessive
autosomal dominant
recessive = enzyme

dominant = structural protein
lyonization
one x chromosome is transcriptionally active
inborn errors of metabolism: predominant inheritance pattern
autosomal recessive
(exception: OTC deficiency)
most chromosomal defects occur during...
gametogenesis
most common autosomal chromosomal abnlity
trisomy 21
Down's syndrome: facial features
1.brachycephaly (flat occiput)
2.flat facial profile
3.up-slanted palpebral fissures
4.small ears
5.flat nasal bridge
6.small mouth, big tongue
Down's syndrome: GI anomalies
1.duodenal atresia
2.Hirschsprung's disease
Down's syndrome: endocrine problems
1.hypothyroid
T/F: trisomy 18 is associated w/advanced maternal age
true
trisomy 13, 18 prognosis
90% die by age 1
trisomy 18: cause
meiotic nondisjunction
trisomy 18: facial features
1.low-set ears
2.prominent occiput
3.narrow bifrontal diameter of forehead
4.micrognathia
trisomy 18: organ problems
1.CHD
2.horseshoe kidney
trisomy 18: extremities
1.clenched hands overlapping fingers
2.rocker-bottom feet
turner syndrome: kidney problems
1.duplicated collecting system
2.horseshoe kidney
turner syndrome: heart problems
1.Coarctation aorta
2.aortic stenosis
3.bicuspid aortic valve
turner syndrome: qualities
1.shield chest
2.streak ovaries
3.lymphedema of hands/feet
4.short
5.multiple pigmented nevi
T/F: Kleinfelter's syndrome not obvious until puberty
true
gynecomastia + tall + increased gonadotropin levels + hypospermia

dx?
Kleinfelter's syndrome
tiptoe walking + seizures + inappropriate laughter

dx?
angelman's syndrome
hypotonia + mental retardation + small genitalia + obesity

dx?
prader-willi's syndrome
inheritance pattern:

fragile x
hereditary angioedema
x-linked
autosomal dominant
diGeorge's syndrome: features
1.cardiac defects (fallot)
2.athymus
3.t-cell deficiency
4.cleft lip/palate
5.hypoparathyroidism hypocalcemic
thin upper lip + short palpebral fissures + smooth philtrum
fetal alcohol syndrome
x% of 1st trimester abortions due to...
chromosomal abnlities
autosomal / sex-linked anomalies are more severe
autosomal anomalies
indications for getting karotype
1.confirmation of chromosomal defect
2.multiple organ malformations
3.developmental delay
4.short
5.delayed menarche
6.infertility
7.hx of multiple spon abortions
8.ambiguous genitalia
9.advanced maternal age
most common error of CHO metablism
galactosemia
cataracts by age 2 months: suspect...
galactosemia
galactosemia infants: increased risk of x infection
e.coli sepsis
galactosemia: tx
eliminate galactose-containing foods from diet
liver failure + renal dysfunction + emesis + anorexia + poor growth + e.coli sepsis

dx?
galactosemia
galactosemia: g-1-p accumulates in...
1.brain
2.kidneys
3.liver
most common a.a. disorder
PKU
PKU: deficiency of...
phenylalanine hydroxylase
PKU: develop high levels of...
1.phenylacetic acid
2.phenyllactic acid
PKU sx develop in infancy or childhood?
childhood
homocystinuria: defect in X -> Y
methionine -> cysteine
dislocated lens + mental retardation + childhood stroke/MI

dx?
homocystinuria
OTC deficiency: dx test
check orotic acid levels in urine
after feeding, baby becomes lethargic, coma, seizures

dx?
OTC deficiency
hurler's syndrome: cause
alpha-iduronidase deficiency
coarse facial features + corneal clouding + CHD
hurler's syndrome
gaucher's disease:
deficiency of...
accumulation of...
beta-glucosidase
glucocerebrosidase
erlenmeyer flask femur bone: suspect...
gaucher's disease
hepatosplenomegaly + pancytopenia + bone pain

dx?
gaucher's disease
dermatan & heparan sulfate accumulation

dx?
hurler's syndrome
exaggerated kyphosis + corneal clouding + coarse facial features

dx?
hurler's syndrome
aortic root dilation + tall
marfan's syndrome
cafe-au-lait spots
1.nf
2.mccune-albright
defective copper excretion
wilson's disease
diethylstilbestrol: causes...
vaginal adenocarcinoma
streptomycin: causes...
deafness
teratogen causing dental enamel hypoplasia, altered bone growth
tetracycline
teratogen causing spina bifida
valproate