ISSN: 2640-2726
Authors: Viveka S*,Vinit S and Bharat D
We report a rare case of Williams Syndrome diagnosed at an age of two months based on subtle facial dysmorphism elfin facies and a pulmonary systolic murmur at birth. Echocardiogram revealed mild supravalvular aortic stenosis and mild supravalvular pulmonary stenosis extending into branch pulmonary arteries. Mild developmental delay, hypotonia, feeding problems, constipation and failure to thrive were present. In view of distinctive facial phenotype in combination with cardiac abnormalities, Williams Syndrome was strongly suspected. It was confirmed by fluorescence in situ hybridisation test demonstrating a deletion of elastin gene on chromosome 7. This case highlights the importance of pediatricians awareness about malformation syndromes which can help in early diagnosis, timely genetic counselling to the family and better patient outcomes.
Keywords: Williams Syndrome; Chromosome 7q11.23; Elfin Facies
