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5 Cards in this Set
- Front
- Back
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Tuberous Sclerosis
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-Autosomal Dominant
-mental retardation -angiofibromas on face (little red zit like papules) -"ash leaf spots" hypopigmented lesions -Hamartomas in brain; astrocyte proliferations in subependyma -Angiomyolipomas in kidney; fatty tumors in kidney -Rhabdomyomas in heart |
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Neurofibromatosis Type I
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-Autosomal Dominant
-Cafe-au-lait macules; dark pigmented neurofibromas (bumpy nodules in skin) -Lisch nodules; pigmented hamartomas of iris -Kyphoscoliosis -Optic nerve gliomas, meningiomas -Pheochromocytomas -Neurofibrosarcomas of large nerve trunks -Chromosome 17; mutated NF-1 gene |
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Sturge-Weber Syndrome
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-Autosomal Dominant
-port-wine (red stain) on face and/or neck; typically in V1 distribution -Ipsilateral leptomeningeal angiomas (ateriovenous malformations of meninges) -Pheochromocytomas |
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von-Hippel-Lindau Disease
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-Autosomal Dominant
-Cavernous hemangiomas in skin, mucosa, organs -Bilateral renal cell carcinomas -Hemangioblastoma in retina, brainstem, cerebellum -Pheochromocytomas -Chromosome 3 mutation on VHL gene |
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Neurofibromatosis Type II
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-Bilateral acoustic neuromas
-Juvenile cataracts -Chromosome 22 NF2 gene, "type 2 == 22" |
