| Pendred's syndrome. | |
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MedLine Citation:
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PMID: 8476169 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Y Kabakkaya; E Bakan; M R Yiğitoğlu; G Gökçe; M Doğan |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 1993-05-20 Completed Date: 1993-05-20 Revised Date: 2006-05-15 |
Medline Journal Info:
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Nlm Unique ID: 0407300 Medline TA: Ann Otol Rhinol Laryngol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 285-8 Citation Subset: AIM; IM |
Affiliation:
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Department of Otolaryngology, Orta Doğu Private Hospital, Erzurum, Turkey. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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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