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6 Cards in this Set
- Front
- Back
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Neurofibromatosis 1
Inheritance Neurologic Findings Cutaneous Findings Other |
Autosomal Dominant (AD) Chromosome (Chr) 17
Optic nerve gliomas Café-Au-lait spots, neurofibromas, axillary or inguinal freckles Lisch nodules in the iris |
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Neurofibromatosis 2
Inheritance Neurologic Findings Cutaneous Findings Other |
AD, Chr 22
Bilateral acoustic neuromas Café-Au-lait spots and neurofibromas are less common than in NF-1 |
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Tuberous sclerosis
Inheritance Neurologic Findings Cutaneous Findings Other |
AD; Tuberous sclerosis complex (TSC) 1 - Chr9, TSC 2- Chr 16
Cortical tubers, subependymal nodules and astrocytomas, mental retardation, seizures Adenoma sebaceum, ash-leaf spots, shagreen patches Angiomyolipomas of kidneys, cardiac rhabdomyoma |
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Ataxia telangiectasia
Inheritance Neurologic Findings Cutaneous Findings Other |
Autosomal Recessive, Chr 11
Truncal ataxia, progressive dementia Telangiectasias Immunodeficiency and susceptibility to infections, leukemia, lymphoma |
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von Hippel-Lindau
Inheritance Neurologic Findings Cutaneous Findings Other |
AD, Chr 3
Cerebellar hemangioblastomas, ataxia Café-au-lait spots Renal lesions including hemangioma and carcinomas, pheochromocytoma |
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Sturge Weber
Inheritance Neurologic Findings Cutaneous Findings Other |
Sporadic
Venous angioma of the pia mater, seizures, hemiparesis, mental retardation Port-wine stain in the distribution of the ophthalmic nerve |
