A VERY INFREQUENT ASSOCIATION OF WILLIAM-BEURAN SYNDROME AND TETRALOGY OF FALLOT
Abstract
WB-S Autosomal Dominant Disorder is the most common genetic disorder. We report a case of 20 year old with infrequent association of WBS and TOF. Clinical examination and ECHO confirmed TOF, WB-S was suspected based on the clinical signs used in the scoring system of WB-S which were described by AAP(2001), FISH study was performed in this patient because of having more than 3 clinical signs of WB-S and FISH study showed 7q11.23 deletion and remains the gold standard laboratory investigation for WB-S.
KEYWORDS: Tetralogy of Fallot; William Beuren Syndrome; Clinical Diagnosis; Fluroscence In Situ Hybridisation.
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How to Cite
S Kollur, B., Mulimani, M. S., Giraddi, T., J V, B., Gowda, S., Patil, A., & Managuli, S. (2017). A VERY INFREQUENT ASSOCIATION OF WILLIAM-BEURAN SYNDROME AND TETRALOGY OF FALLOT. International Journal of Clinical and Biomedical Research, 3(2), 24–26. Retrieved from https://sumathipublications.com/index.php/ijcbr/article/view/142
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Published In:
Volume 3, Issue 2; April 2017