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4 Cards in this Set
- Front
- Back
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What is the mutation that causes neurofibromatosis?
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NF-1 mutation in which the tumor-suppressive gene encoding for neurofibromin on chromosome 17; half pts inherit the mutation, other half diagnosed without a famhx
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What are characteristics of cafe-au-laits in NF pts?
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5mm to 30mm in diameter and uniformly brown, with a smooth "coast of California" border; presence of 6 or more CALMs 0.5cm or more in diameter before puberty or 1.5cm or more in diameter after puberty is major criteria. Low risk when less than 6 CALMs and no other criteria. If criteria is met its by 6-8 yrs
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What are effects of NF?
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neurocognitive defects, learning disability, low average IQ's, autism, ADHD, incoordination, language defecits
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What do you moniter NF patients for?
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yearly slit-lamp exams, annual assessment for intertriginous freckling, scoliosis, neurodevelopment, blood pressure, Tanner staging.
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