Document Detail


Pendred's syndrome.
MedLine Citation:
PMID:  8476169     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Although 5% of all cases of congenital deafness are caused by Pendred's syndrome, there are few reports in the literature. Seven patients with Pendred's syndrome in three families living in the same village were detected. For that reason, the syndrome is reviewed in light of the literature. The sex distribution of the patients with Pendred's syndrome and their families was recorded. We tested for thyroxine, triiodothyronine, thyroid-stimulating hormone, triiodothyronine resin uptake, and perchlorate, and performed caloric testing. In one patient, subtotal thyroidectomy was performed. In the histopathologic study, a thyroid nodule filled with colloid was found. Chromosome studies showed no anomalies in any patient. Five of the patients were deaf-mutes. We observed that the parents were cousins in all three families. These families also had healthy children, and the existence of the syndrome in both sexes points to an autosomal recessive trait.
Authors:
Y Kabakkaya; E Bakan; M R Yiğitoğlu; G Gökçe; M Doğan
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Annals of otology, rhinology, and laryngology     Volume:  102     ISSN:  0003-4894     ISO Abbreviation:  Ann. Otol. Rhinol. Laryngol.     Publication Date:  1993 Apr 
Date Detail:
Created Date:  1993-05-20     Completed Date:  1993-05-20     Revised Date:  2006-05-15    
Medline Journal Info:
Nlm Unique ID:  0407300     Medline TA:  Ann Otol Rhinol Laryngol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  285-8     Citation Subset:  AIM; IM    
Affiliation:
Department of Otolaryngology, Orta Doğu Private Hospital, Erzurum, Turkey.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Deafness / congenital*,  diagnosis,  genetics
Family Health*
Female
Goiter, Endemic / congenital*,  diagnosis,  genetics,  surgery
Humans
Male
Sex Factors
Syndrome

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


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