title: [Pendred syndrome as a cause of familial deafness].
abstract: Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and goiter. The gene responsible for this syndrome is located on chromosome 7q31. The disorder is related to a defect in iodine organification, but the molecular basis of the defect remains unknown. We report two cases of Pendred syndrome, a young woman and her brother. The patients presented deafness, goiter that appeared in the prepubertal years, and a positive perchloriate discharge test. The genetic factors, clinical features, and diagnosis are reviewed.
authors.affiliation: Servicio de ORL y Patología Cérvico-Facial, Hospital Universitario de Salamanca, Salamanca, España.
authors.forename: J
authors.initials: J
authors.lastname: Benito González
authors.forename: D
authors.initials: D
authors.lastname: Pérez Plasencia
authors.forename: F
authors.initials: F
authors.lastname: Benito González
authors.forename: P
authors.initials: P
authors.lastname: Blanco Pérez
authors.forename: F
authors.initials: F
authors.lastname: Aguirre García
authors.forename: T
authors.initials: T
authors.lastname: Mories
authors.forename: A
authors.initials: A
authors.lastname: Cañizo Alvarez
mesh_terms: D000293:Adolescent; D000328:Adult; D002897:Chromosomes, Human, Pair 7; D003638:Deafness / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006042:Goiter / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D013577:Syndrome