A Very Infrequent Association of William-Beuran Syndrome and Tetralogy of Fallot

Authors: Dr. Banashankari S Kollur, Dr. M S Mulimani, Dr. Timmanna Giraddi, Dr. Bomman J V,    
Dr. Shashank Gowda, Dr. Anupama Patil, Dr. Sushmita Managuli.
Int J Clin and Biomed Res 2017;3(2):24-26.
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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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