Pendred Syndrome (Sporadic Goiter with Deafness)
General: Autosomal recessive; defect in thyroxine 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.
Sporadic Cretinism (Congenital Hypothyroidism) General: Variabl [...] |
Parotid Aplasia or Hypoplasia (Salivary Gland Absence; Lacrimal Puncta Absence) General: Autosomal dominant. Ocular: [...] |
Subacute Bacterial Endocarditis 1 Ge [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
