Pendred syndrome in Tunisia - 27/05/10
Corresponding author. Service d’ORL et de chirurgie cervicofaciale, CHU Habib Bourguiba, 3029 Sfax, Tunisia. Tel.: +216 74 243 979.Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
| pages | 4 |
| Iconographies | 3 |
| Vidéos | 0 |
| Autres | 0 |
Summary |
Objectives |
We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome.
Patients and methods |
Three families from the south of Tunisia were identified as affected by Pendred syndrome. The patients and their families underwent ENT and general examination and audiovestibular and radiological tests. Molecular DNA analysis was performed by the Sfax Human Molecular Genetics Department.
Results |
Forty-three patients (mean age: 21 years [2–60 years]) were affected. Tonal audiometry showed bilateral sensorineural hearing loss in 87.5% of cases, and mixed hearing loss in 12.5% with bilateral high frequency sensorineural hearing loss and conductive hearing loss at lower frequencies. Deafness was severe in 21% and profound in 79% of cases. Thyroid goiter was found in 46.5% of cases. Inner ear CT scan found enlarged bilateral vestibular aqueducts in all cases. Hormone analysis was normal and perchlorate test negative in all cases. A single Pendred syndrome (PDS) gene mutation, L445W, was found.
Discussion |
Pendred syndrome is the most frequent congenital deafness syndrome. It is characterized by great intrafamilial phenotype variability.
Le texte complet de cet article est disponible en PDF.Keywords : Pendred, Deafness, Goiter, Enlarged vestibular aqueduct
Plan
Vol 127 - N° 1
P. 7-10 - mars 2010 Retour au numéro
Article précédent
- Surgical-site infections and surgery of the salivary glands
- M. Metais, S. Vergez, B. Lepage, J.-J. Pessey, E. Serrano, S. Malavaud
- Middle ear implant for mixed hearing loss with malformation in a 9-year-old child
- S. Roman, R. Nicollas, J.-M. Triglia
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’achat d’article à l’unité est indisponible à l’heure actuelle.
Déjà abonné à cette revue ?