Williams-Beuren Syndrome: A Rare Case from Western India
Journal Title: Journal of Health Science Research - Year 2016, Vol 1, Issue 1
Abstract
Williams-Beuren Syndrome (WBS) also known as Williams Syndrome (WS) is a rare multisystem genetic disorder havingincidence of 1 in 20,000 to 50,000 live births. WS caused by deletion of 26 – 28 contiguous genes including elastin (ELN)on chromosome 7q11.23. It is characterized by congenital heart defects, skeletal and renal anomalies. We report herein two rare cases of WS (One male and one female) from Western India varying clinical presentation. The confirmation was carried out by cytogenetic analysis and FISH test.
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- EP ID EP462849
- DOI 10.18311/jhsr/2016/v1/i1/839
- Views 110
- Downloads 0
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