In:
Annals of Otology, Rhinology & Laryngology, SAGE Publications, Vol. 102, No. 4 ( 1993-04), p. 285-288
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0003-4894
,
1943-572X
DOI:
10.1177/000348949310200407
Language:
English
Publisher:
SAGE Publications
Publication Date:
1993
detail.hit.zdb_id:
2033055-8
Permalink
