World Heart Congress
Mymensingh Medical College & Hospital, Bangladesh
Title: Williams Syndrome - Case report
Biography: Gobinda Kanti Paul
A 7-year old boy was diagnosed with William’s syndrome clinically with the help of some investigations. This child having mal-occlusion of multiple teeth with dental carries, large forehead, small chin, puffiness around both eye, looks like “elfin facies” with low IQ. He has a systolic murmur (Grade-3/6) in the base of the heart. Echo, Doppler gradient found in the just supra-valvular area, 114mmHg (Supra-valvular Aortic stenosis) & MVP (Mitra valve prolapse). This child also has blockage of naso-lacrimal duct, causing watering of eye. William’s syndrome (WS) is a neuro-developmental, multi-system genetic disorder characterized by distinctive personality traits, facial dysmorphisom (“elfin face”) and congenital cardiac defects, of which supra-valvula aortic stenosis is the most common lesion found. It is characterized by congenital heart defects (CHD), Skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. WS is a rare familial multi-system disorder occurring in 1 per 20,000 live births.
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