Paul GK*, Bari MS, MMN Islam and Bari MA
Department of Cardiology, Mymensingh Medical College & Hospital, BangladeshFulltext PDF
A 7 years old boy diagnosed Williams’s syndrome by 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-4/6) in the base of the heart. Echo, Doppler gradient found in the just supra-valvular area, 128 mmHg (Supra- valvular Aortic stenosis) and MVP (Mitra valve Prolapse). This child also having blockage of naso-lacrimal duct, causing watering of eye. William’s Syndrome (WS) is a neurodevelopmental, multisystem genetic disorder characterized by distinctive personality traits, facial dysmorphisom (elfin faceǁ) and congenital cardiac defects, of which supravalvular 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 multisystem disorder occurring in 1 per 20,000 live births.
Paul GK, Bari MS, MMN Islam, Bari MA. Facial Dysmorphism with Precordial Systolic Murmur of a Young Boy Williams Syndrome. Ann Clin Case Rep. 2017; 2: 1427.