Williams Syndrome: A Case Report

Hasila M M , Mohammed Jaseel M , LakshmiDevi B P , Dr. Chitra Hasini , Dr. Namratha Dumthi

Williams Syndrome (WS), Dysmorphism, Mental retardation, elf-like face, FISH test, Gene mapping.

William’s syndrome (WS) is a neuro-developmental, multi-system genetic disorder characterized by distinctive personality traits. It is characterized by congenital heart defects (CHD), Skeletal and renal anomalies, cognitive disorder, social personality disorder, endocrine abnormalities, dental abnormalities, dysmorphic facies and growth retardation. FISH test is the confirmatory diagnostic test for Williams Syndrome which demonstrates the deletion of chromosomes 7q11.23.

Published Paper   E-Certificate

"Williams Syndrome: A Case Report", IJSDR - International Journal of Scientific Development and Research (www.IJSDR.org), ISSN:2455-2631, Vol.9, Issue 2, page no.560 - 562, February-2024, Available :https://ijsdr.org/papers/IJSDR2402086.pdf

Volume 9 Issue 2, February-2024

Pages : 560 - 562

Paper Reg. ID: IJSDR_210182

Published Paper Id: IJSDR2402086

Downloads: 000347328

Research Area: Medical Science

Country: Calicut, Kerala, India

Published Paper PDF: https://ijsdr.org/papers/IJSDR2402086

Published Paper URL: https://ijsdr.org/viewpaperforall?paper=IJSDR2402086

ISSN: 2455-2631 | IMPACT FACTOR: 9.15 Calculated By Google Scholar | ESTD YEAR: 2016

An International Scholarly Open Access Journal, Peer-Reviewed, Refereed Journal Impact Factor 9.15 Calculate by Google Scholar and Semantic Scholar | AI-Powered Research Tool, Multidisciplinary, Monthly, Multilanguage Journal Indexing in All Major Database & Metadata, Citation Generator

Publisher: IJSDR(IJ Publication) Janvi Wave

This work is licensed under a Creative Commons Attribution 4.0 International License and The Open Definition