Article
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.
International journal of pediatric otorhinolaryngology - 2 Oct 1998
Cremers C W, Admiraal R J, Huygen P L, Bolder C, Everett L A, Joosten F B, Green E D, van Camp G, Otten B J
Abstract excerpt
Long-term hearing threshold-on-age follow-up data, including non-linear regression analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's syndrome was confirmed by a mutation analysis of the PDS gene in 11 out of the 11 cases tested. Recent imaging of the tem...
Topics
- Child
- Child, Preschool
- Cochlea
- DNA Mutational Analysis
- Female
- Follow-Up Studies
- Goiter
- Hearing Loss, Sensorineural
- Humans
- Infant
- Male
- Phenotype
- Regression Analysis
- Syndrome
- Time Factors
- Vestibular Aqueduct