Document Detail

Pendred's syndrome.
MedLine Citation:
PMID:  8476169     Owner:  NLM     Status:  MEDLINE    
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.
Y Kabakkaya; E Bakan; M R Yiğitoğlu; G Gökçe; M Doğan
Related Documents :
2846249 - Turcot's syndrome. a review.
3305929 - Familial acanthosis nigricans. a longitudinal study.
7054739 - Kearns syndrome or kearns disease. further evidence of a genuine entity in a case with ...
8256809 - Williams syndrome: autosomal dominant inheritance.
7350869 - Hermansky-pudlak syndrome with granulomatous colitis.
2166139 - Restless legs syndrome and nocturnal myoclonus: initial clinical manifestation of famil...
11094219 - Vanishing gastroschisis and short-bowel syndrome.
3602149 - Toxic shock syndrome following breast and nasal surgery.
9116709 - Fibrinolytic treatment in primary antiphospholipid syndrome.
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    
Department of Otolaryngology, Orta Doğu Private Hospital, Erzurum, Turkey.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Deafness / congenital*,  diagnosis,  genetics
Family Health*
Goiter, Endemic / congenital*,  diagnosis,  genetics,  surgery
Sex Factors

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

Previous Document:  Teflon injection: pointers and pitfalls.
Next Document:  Comparison of functional endoscopic sinus surgery under local and general anesthesia.