WORLD JOURNAL OF ADVANCE
HEALTHCARE RESEARCH

( An ISO 9001:2015 Certified International Journal )

An International Peer Review Journal for Medical Science and Pharma Professionals

An Official Publication of Society for Advance Healthcare Research (Reg. No. : 01/01/01/31674/16)

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  • Index Copernicus
  • SOCOLAR, China
  • Research Bible, Fuchu, Tokyo. JAPAN
  • Cosmos Impact Factor
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Abstract

WILLIAMS SYNDROME: ELFIN FACIES WITH SUPRAVALVULAR AORTIC STENOSIS: A RARE CASE REPORT

Akhil Mehrotra*, Mohammad Shaban and Faiz Illahi Siddiqui

ABSTRACT

We are reporting a rare case of Williams Syndrome (WS) in a three year old female child based on the characteristic facial dysmorphism (ELFIN FACIES) and a significant aortic ejection murmur at the left sternal edge. Transthoracic echocardiography (TTE) disclosed a discrete membranous supravalvular aortic stenosis (SVAS) at an unusual location in the ascending aorta. Due to the presence of above features there was high suspicion of WS. However, genetic testing for confirmation of WS, could not be performed due to the paucity of funds.

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