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Von Hippel-Lindau's Disease

Lee A. Christoferson, M.D.; Maynard B. Gustafson, M.D.; A. Gene Petersen, M.D.
JAMA. 1961;178(3):280-282. doi:10.1001/jama.1961.03040420020005.
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The combination of cystic and angiomatous lesions called von Hippel-Lindau's disease was sought for among 90 members of an afflicted family, and various manifestations were found in 11 persons. Angiomas were found in the cerebellum in 5 cases, in the brain stem in 3, and in the retina in 3. There were 6 hypernephromas, and polycystic disease was found in the kidneys of 4 and the pancreas of 5 persons. The incidence was 12%. Genetic study indicated that the trait is inherited in a modified dominant pattern with only a moderate degree of penetrance. It was apparently transmitted by affected or unaffected members of either sex.


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