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8 Cards in this Set
- Front
- Back
Tuberous Sclerosis Complex
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AD, involves Chrom 9 or 16 characterized by benign tumors of brain, heart, skin, eye, kidney, lung.
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Tuberous Sclerosis Complex presentation
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adenoma sabaceum, tubers, epilepsy, behavior and developmental problems
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Neurofibromatosis Type 1
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AD Chrom 17. café-au-lait spots, axillary freckling, Lisch nodules of the iris, neurofibromas
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Neurofibromatosis Type 2
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AD Chrom 22. Bilateral 8th nerve sheath tumors, tumors in other CN
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Sturge-Weber
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sporadic; caused by residual embryonal blood vessels.
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Sturge Weber presentation
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Sporadic, port wine stain in trigeminal distribution with involvement of the underlying meninges and secondary epilepsy
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Von Hippel-Lindau
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AD, Chrom 3
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VHL presentation
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hemangioblastomas of the CNS, no skin involvement, pheochromocytomas, Renal Cell Carcinoma
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