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10 Cards in this Set
- Front
- Back
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What is the baseline rate of congenital abnormalities (aka birth defects?)
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3-4%
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What is recommended to prevent neural tube defects? (e.g., spina bifida, anencephaly)
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.4 - .8 mg folic acid daily for all women of childbearing age.
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Canthus
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where eyelids come together (inner and outer)
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Gravida
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Number of times a woman has been pregnant
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Microtia
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Small ears
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Hypertelorism
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Too much space between eyes
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Characteristics of retinoic acid syndrome (from isotretinoin during pregnancy)
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hypertelorism, microtia, cleft palate, macrocephaly
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Holoprosencephaly
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Results from single frontal lobe
Also includes cleft palate, midline problems (eyes too close), small forehead |
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At what stages of pregnancy are teratogens most and least likely to cause problems?
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0-2 weeks: severely susceptible to teratogens; will cause death
3-8 weeks: very susceptible, will have major morphological abnormalities as this is when internal organs are primarily forming (except brain continues) 8weeks - full term: functional defects and minor morphological abnormalities. Have to look at what stage of pregnancy mother is in, a drug that affects heart development may be least safe before 8 weeks as heart is developed by then. |
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What are some characteristic symptoms of lysosomal storage diseases?
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They all result in a block in the pathway, so some intermediate/metabolite is building up that can't get broken down.
Results in accumulation of the intermediate in bones, skin, etc. <b>Coarsening of facial features.</b> Hurler syndrome is example (MPS I) |
