Rud Syndrome 1
General: Etiology unknown; immature ne 424h76e rve cells and decreased number of cells; Betz cells in the motor cortex show chronic chromatolysis; excess of oligodendroglia in the frontal cortex; relationship to tuberous sclerosis and neurofibromatosis; X-linked inheritance has been reported.
Ocular: Retinal pigmentary degeneration.
Clinical: Epilepsy; infantilism; idiocy; congenital ichthyosis; muscular atrophy; male hypogonadism.
Duke-Elder S, ed. System of Ophthalmology, vol. III. part 2. St. Louis: CV Mosby, 1976:1130.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Rud E. Et Tilfaelde af Infantilsms med Tetani, Epilepsy, Polyneuritis, Ichthiosis og Anaemi of Pernicios Type. Hospitalstidende 1927; 70:525.
Wisniewski K, et al. X-linked inheritance of the Rud syndrome. Am J Hum Genet 1985; 37:A83.
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