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62 Cards in this Set
- Front
- Back
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X% of birth defects due to environmental factors
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10%
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teratogens: groupings
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1.infections
2.radiation 3.maternal metabolic disorders 4.mechanical forces 5.drugs |
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teratogen exposure at <12 wks
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organogenesis
tissue morphogenesis |
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teratogen exposure > 12 wks
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retards fetal growth
CNS development effect |
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most common maternal metabolic disorder = teratogen
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diabetes mellitus
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variable expressivity/penetrance: seen usually in what mode of inheritance
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autosomal dominant
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variable expressivity/penetrance
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varying degree of severity
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defect in...
autosomal recessive autosomal dominant |
recessive = enzyme
dominant = structural protein |
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lyonization
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one x chromosome is transcriptionally active
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inborn errors of metabolism: predominant inheritance pattern
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autosomal recessive
(exception: OTC deficiency) |
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most chromosomal defects occur during...
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gametogenesis
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most common autosomal chromosomal abnlity
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trisomy 21
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Down's syndrome: facial features
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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 |
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Down's syndrome: GI anomalies
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1.duodenal atresia
2.Hirschsprung's disease |
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Down's syndrome: endocrine problems
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1.hypothyroid
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T/F: trisomy 18 is associated w/advanced maternal age
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true
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trisomy 13, 18 prognosis
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90% die by age 1
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trisomy 18: cause
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meiotic nondisjunction
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trisomy 18: facial features
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1.low-set ears
2.prominent occiput 3.narrow bifrontal diameter of forehead 4.micrognathia |
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trisomy 18: organ problems
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1.CHD
2.horseshoe kidney |
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trisomy 18: extremities
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1.clenched hands overlapping fingers
2.rocker-bottom feet |
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turner syndrome: kidney problems
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1.duplicated collecting system
2.horseshoe kidney |
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turner syndrome: heart problems
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1.Coarctation aorta
2.aortic stenosis 3.bicuspid aortic valve |
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turner syndrome: qualities
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1.shield chest
2.streak ovaries 3.lymphedema of hands/feet 4.short 5.multiple pigmented nevi |
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T/F: Kleinfelter's syndrome not obvious until puberty
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true
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gynecomastia + tall + increased gonadotropin levels + hypospermia
dx? |
Kleinfelter's syndrome
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tiptoe walking + seizures + inappropriate laughter
dx? |
angelman's syndrome
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hypotonia + mental retardation + small genitalia + obesity
dx? |
prader-willi's syndrome
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inheritance pattern:
fragile x hereditary angioedema |
x-linked
autosomal dominant |
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diGeorge's syndrome: features
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1.cardiac defects (fallot)
2.athymus 3.t-cell deficiency 4.cleft lip/palate 5.hypoparathyroidism hypocalcemic |
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thin upper lip + short palpebral fissures + smooth philtrum
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fetal alcohol syndrome
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x% of 1st trimester abortions due to...
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chromosomal abnlities
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autosomal / sex-linked anomalies are more severe
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autosomal anomalies
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indications for getting karotype
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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 |
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most common error of CHO metablism
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galactosemia
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cataracts by age 2 months: suspect...
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galactosemia
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galactosemia infants: increased risk of x infection
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e.coli sepsis
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galactosemia: tx
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eliminate galactose-containing foods from diet
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liver failure + renal dysfunction + emesis + anorexia + poor growth + e.coli sepsis
dx? |
galactosemia
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galactosemia: g-1-p accumulates in...
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1.brain
2.kidneys 3.liver |
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most common a.a. disorder
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PKU
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PKU: deficiency of...
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phenylalanine hydroxylase
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PKU: develop high levels of...
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1.phenylacetic acid
2.phenyllactic acid |
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PKU sx develop in infancy or childhood?
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childhood
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homocystinuria: defect in X -> Y
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methionine -> cysteine
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dislocated lens + mental retardation + childhood stroke/MI
dx? |
homocystinuria
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OTC deficiency: dx test
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check orotic acid levels in urine
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after feeding, baby becomes lethargic, coma, seizures
dx? |
OTC deficiency
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hurler's syndrome: cause
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alpha-iduronidase deficiency
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coarse facial features + corneal clouding + CHD
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hurler's syndrome
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gaucher's disease:
deficiency of... accumulation of... |
beta-glucosidase
glucocerebrosidase |
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erlenmeyer flask femur bone: suspect...
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gaucher's disease
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hepatosplenomegaly + pancytopenia + bone pain
dx? |
gaucher's disease
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dermatan & heparan sulfate accumulation
dx? |
hurler's syndrome
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exaggerated kyphosis + corneal clouding + coarse facial features
dx? |
hurler's syndrome
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aortic root dilation + tall
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marfan's syndrome
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cafe-au-lait spots
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1.nf
2.mccune-albright |
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defective copper excretion
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wilson's disease
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diethylstilbestrol: causes...
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vaginal adenocarcinoma
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streptomycin: causes...
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deafness
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teratogen causing dental enamel hypoplasia, altered bone growth
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tetracycline
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teratogen causing spina bifida
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valproate
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