| Titre : | Waardenburg syndrome (2006) |
| Auteurs : | Julie M. Schultz |
| Type de document : | Article |
| Dans : | Seminars in hearing (Vol. 27, n°3, August 2006) |
| Article en page(s) : | p. 171-181 |
| Langues: | Anglais |
| Descripteurs : |
HE Vinci Syndrome de WaardenburgAutres descripteurs Surdité congénitale ou héréditaire |
| Résumé : | Auditory-pigmentary disorders result from the absence of melanocytes in the cochlea, skin, hair, and eyes. Waardenburg syndrome (WS) is one such autosomal dominant disorder that is characterized by congenital sensorineural hearing loss and pigmentation anomalies of neural crest-derived tissues. The clinical features of WS, including hearing loss, are not fully penetrant and interfamilial and intrafamilial variation in the phenotype is a common observation. A wide variety of unique mutations in at least six genes contribute to the phenotype in WS patients; however, the type and location of mutations have not been strongly correlated with the different clinical features that are expressed. Bilateral, congenital deafness is the most serious clinical feature expressed in the common types of WS and has been successfully habilitated through hearing aids or cochlear implants. |
| Disponible en ligne : | Oui |
| En ligne : | https://login.ezproxy.vinci.be/login?url=https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-2006-947284 |
Bibliothèques HE Vinci
