Pendred Syndrome (Sporadic Goiter with Deafness)
General: Autosomal recessive; defect in thyroxine 919d35j biosynthesis.
Ocular: Retinal pigmentary degenerative changes; pendular nystagmus; bull's-eye-type macular degeneration.
Clinical: Thyroid enlargement; sensorineural hearing loss; mental retardation; thyroid carcinoma.
Fraser GR. Deafness, congenital with sporadic goiter (Pendred syndrome). In: Handbook of Clinical Neurology. Amsterdam, North Holland, 1981:368-370.
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/.
Pendred V. Deaf mutism and goitre. Lancet 1896; 2:532.
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