Pendred Syndroma - Remarks to the Problem of Inborn Autosomal-Recessive Perception Hearing Loss Connected withStr uma
Authors:
J. Astl; D. Veselý; P. Jablonický
Authors‘ workplace:
Klinika ORL a chirurgie hlavy a krku 1. LF UK a FN Motol, Praha, Katedra otorinolaryngologie IPVZ, Praha, přednosta prof. MUDr. J. Betka, DrSc.
Published in:
Otorinolaryngol Foniatr, , 2004, No. 2, pp. 55-59.
Category:
Overview
S umma r y:
The Pendred syndrome is defined as strumaconnected with perceptual partial hearingloss.More recent definition of the syndrome includes partial perceptual hearing loss connected withthe finding of extended vestibular aquaduct. The literature data indicate that Pendred syndromeparticipates in 5 - 10% of all hereditary cases of hearing loss.The gene coding chloride anion transporter, whose mutations are directly related to Pendredsyndrome was detected on chromosome 7, was detected at the National Human Genome ResearchInstitute (U.S.A.) in 1997 was accordingly named PDS gene (Pendred syndrome gene).The present paper reviews the knowledge about Pendred syndrome, summarized diagnostic as wellas clinical criteria of Pendred syndrome.
Key words:
Pendred Syndroma, diagnostic, characterization of gene.
Labels
Audiology Paediatric ENT ENT (Otorhinolaryngology)Article was published in
Otorhinolaryngology and Phoniatrics
2004 Issue 2
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