| Autor: |
Benito González J; Servicio de ORL y Patología Cérvico-Facial, Hospital Universitario de Salamanca, Salamanca, España., Pérez Plasencia D, Benito González F, Blanco Pérez P, Aguirre García F, Mories T, Cañizo Alvarez A |
| Jazyk: |
Spanish; Castilian |
| Zdroj: |
Acta otorrinolaringologica espanola [Acta Otorrinolaringol Esp] 1999 Aug-Sep; Vol. 50 (6), pp. 477-9. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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