Pandred Syndrome: A Case Report
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2017, Vol 16, Issue 5
Abstract
Pendred syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) in the United States of America.Pendred syndrome is characterized by the association of congenital bilateral neurosensory deafness, thyroid goiter, cochleovestibular malformation and potential vestibular dysfunction. Incidence ranges between 1/100,000 and 10/100,000 births, according to geographic location.It is an autosomal recessive inherited condition and the incriminated gene, PDS or SLC26A4, is located on 7q31 and encodes an iodide and chloride transporter.
Authors and Affiliations
Dr. Mayank Badkur, Dr. Seema Patel, Dr. Chirag, Dr. Nitin Garg
Keywords
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- EP ID EP597634
- DOI 10.9790/0853-160507102105.
- Views 42
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