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[Abstract] [PDF] [HTML] [Linked References] International Journal of Recent Trends in Science and Technology, ISSN 2277-2812 E-ISSN: 2249-8109 Volume 9, Issue 2, December 2013 pp 267-269 Case Report WAGR Syndrome – A Case Report
Rakhee B. Khatiwala1, Vaishali Pawar2, Deokrishna M. Sindal3 {1Resident, 2Senior resident, 3Professor and HOD} Department of Ophthalmology, Krishna Institute of Medical Sciences Deemed University, Karad, Maharashtra, INDIA.
Abstract
WAGR syndrome is a rare, sporadic genetic disorder characterized by W-Wilm's tumour, A-Aniridia, G-Genito-urinary anomalies and R-Mental Retardation due to de novo deletion in the distal band of 11p13 chromosome. It is a contiguous gene deletion syndrome. The syndrome is usually recognized by sporadic aniridia present at birth, often followed by the development of Wilm's tumour in early childhood, but possible at any age. Here we report a case of 4 years old female child having bilateral aniridia, abdominal mass and mental retardation. |
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