Document Detail


Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.
MedLine Citation:
PMID:  9849679     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
C W Cremers; R J Admiraal; P L Huygen; C Bolder; L A Everett; F B Joosten; E D Green; G van Camp; B J Otten
Related Documents :
12072059 - Hid and kid syndromes are associated with the same connexin 26 mutation.
9630669 - Contribution of two missense mutations (g71r and y486d) of the bilirubin udp glycosyltr...
12925729 - Drosophila spalt/spalt-related mutants exhibit townes-brocks' syndrome phenotypes.
20191369 - Successful treatment of steroid-resistant nephrotic syndrome associated with wt1 mutati...
20616219 - Severe congenital neutropenia resulting from g6pc3 deficiency with increased neutrophil...
11861489 - A mouse model of alagille syndrome: notch2 as a genetic modifier of jag1 haploinsuffici...
24083039 - A male with cooccurrence of down syndrome and fragile x syndrome.
18724129 - The value of the maxillo-malar osteotomy in the treatment of crouzon syndrome with exor...
18802229 - Case study: rehabilitation of multiple joint instability associated with ehlers- danlos...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  45     ISSN:  0165-5876     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-02-12     Completed Date:  1999-02-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  IRELAND    
Other Details:
Languages:  eng     Pagination:  113-23     Citation Subset:  IM    
Affiliation:
Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child
Child, Preschool
Cochlea / abnormalities*
DNA Mutational Analysis
Female
Follow-Up Studies
Goiter / genetics
Hearing Loss, Sensorineural / genetics*
Humans
Infant
Male
Phenotype
Regression Analysis
Syndrome
Time Factors
Vestibular Aqueduct / pathology*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Dissociation between the Joro spider toxin sensitivity of recombinant alpha-amino-3-hydroxy-5-methyl...
Next Document:  Relationship between chronic nasal obstruction and craniofacial growth: an experimental model.