Waardenburg Syndrome Associated With Nephroticsyndrome and Hypothyroidism – A Rare Case Scenario
Journal Title: IOSR Journal of Dental and Medical Sciences (IOSR-JDMS) - Year 2019, Vol 18, Issue 3
Abstract
Waardenburg syndrome is a group of rare genetic conditions that include: pigmentary disturbances of skin, eyes and nails, hearing loss, wide bridge of the nose etc. Symptoms vary from one type of the syndrome to another and from one patient to another. A 19 year old female came with the chief complaints of generalized swelling of the body associated with shortness of breath since 15 days. Similar episode is present in the past, 1 year before. She has Hypothyroidism since 2years, under medication.It is disease of improper migration of cells during embryogenesis that is inherited in autosomal dominant pattern. It is due to the defect in genes encoding the regulatory proteins of cell migration
Authors and Affiliations
Dr. Sravya Ravi, Dr. P. V. V Satyanarayana
Keywords
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- EP ID EP554028
- DOI 10.9790/0853-1803026062.
- Views 39
- Downloads 0
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