Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred’s syndrome

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 tempor...

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Bibliographic Details
Published in:International journal of pediatric otorhinolaryngology 1998-10, Vol.45 (2), p.113-123
Main Authors: Cremers, Cor W.R.J., Admiraal, Ronald J.C., Huygen, Patrick L.M., Bolder, Cuny, Everett, Lorraine A., Joosten, Frank B.M., Green, Eric D., van Camp, Guy, Otten, Barto J.
Format: Article
Language:English
Subjects:
Autosomal recessive
Biological and medical sciences
Child
Child, Preschool
Childhood deafness
Cochlea - abnormalities
DNA Mutational Analysis
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Enlarged vestibular aqueduct
Female
Follow-Up Studies
Genetic deafness
Goiter - genetics
Hearing Loss, Sensorineural - genetics
Humans
Infant
Male
Medical sciences
Mondini’s dysplasia
Non tumoral diseases
Otorhinolaryngology. Stomatology
PDS gene
Pendred’s syndrome
Phenotype
Regression Analysis
Sensorineural hearing loss
Syndrome
Time Factors
Vestibular Aqueduct - pathology
Widened vestibular aqueduct
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Summary: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 temporal bones in seven out of these 12 patients showed widened vestibular aqueducts in each case. The diagnostic perchlorate test was negative in one patient, but this test was positive in her affected sister. Mutation analysis of the PDS gene in these patients confirmed that Pendred’s syndrome is a monogenetic disorder. Progressive sensorineural hearing loss and widened vestibular aqueducts are characteristic features of Pendred’s syndrome, which provides the opportunity to diagnose Pendred’s syndrome clinically in the first few years of life, as has recently been suggested in a case report (Cremers et al., Progressive sensorineural hearing loss and a widend vestibular aqueduct in Pendred syndrome, Arch. Otolaryngol. 124 (1998) 501–505). Mutation analysis of the involved gene can be used to confirm the clinical diagnosis.
ISSN:0165-5876
1872-8464
DOI:10.1016/S0165-5876(98)00123-2