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10 Cards in this Set

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  • Back
What is the baseline rate of congenital abnormalities (aka birth defects?)
3-4%
What is recommended to prevent neural tube defects? (e.g., spina bifida, anencephaly)
.4 - .8 mg folic acid daily for all women of childbearing age.
Canthus
where eyelids come together (inner and outer)
Gravida
Number of times a woman has been pregnant
Microtia
Small ears
Hypertelorism
Too much space between eyes
Characteristics of retinoic acid syndrome (from isotretinoin during pregnancy)
hypertelorism, microtia, cleft palate, macrocephaly
Holoprosencephaly
Results from single frontal lobe
Also includes cleft palate, midline problems (eyes too close), small forehead
At what stages of pregnancy are teratogens most and least likely to cause problems?
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.
What are some characteristic symptoms of lysosomal storage diseases?
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)