[Pendred syndrome as a cause of familial deafness].
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.
Benito González
J
J
Servicio de ORL y Patología Cérvico-Facial, Hospital Universitario de Salamanca, Salamanca, España.
Pérez Plasencia
D
D
Benito González
F
F
Blanco Pérez
P
P
Aguirre García
F
F
Mories
T
T
Cañizo Alvarez
A
A
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