Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Respiratory Medicine
- Sleep Medicine and Disorders
- Microbiology
- Diabetology
- Nuclear Medicine
- Emergency Medicine and Critical Care
- Palliative Care
- Orthopedics & Rheumatology
Abstract
Citation: Ann Clin Case Rep. 2017;2(1):1427.DOI: 10.25107/2474-1655.1427
Facial Dysmorphism with Precordial Systolic Murmur of a Young Boy Williams Syndrome
Paul GK, Bari MS, MMN Islam and Bari MA
Department of Cardiology, Mymensingh Medical College & Hospital, Bangladesh
PDF Full Text Case Report | Open Access
Abstract:
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 faceÇ) 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.
Keywords:
Cite the Article:
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.