A VERY INFREQUENT ASSOCIATION OF WILLIAM-BEURAN SYNDROME AND TETRALOGY OF FALLOT

  • Banashankari S Kollur
  • M S Mulimani
  • Timmanna Giraddi
  • Bomman J V
  • Shashank Gowda
  • Anupama Patil
  • Sushmita Managuli

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.
Published
2017-04-18
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://ijcbr.com/index.php/ijcbr/article/view/121
Section
Case Reports