Williams Syndrome
The Common Vein Copyright 2007
Introduction
William’s syndrome is a sporadic genetic disorder, resulting in a clinical presentation that includes idiopathic hypercalcemia, facial dysmorphism, cardiovascular disease and characteristic personality traits.
Cause
Genetic disorder is associated with a deletion on band 7q11.23 near the elastin gene (95-98% of patients)
Result
Clinical
Clinical presentation includes, facial dysmorphism, cardiovascular disease and characteristic personality traits.
Facial Features and Personality
The facial dysmorphism is characterised by “elfin like facies with a short upturned nose, flat nasal bridge, long philtrum, flat malar area, wide mouth, full lips, dental malocclusion, micrognathia, stellate irides, or periorbital fullness. The patients have notable musical and verbal abilities and are very sociable. Their personalities have often been referred to as “cocktail personalities.
Cardiovascular Disease
About 60% of patients have cardiovascular disease with the most characteristic lesion being supravalvular aortic stenosis. (SVAS) Isolated supravalvular aortic stenosis n a child is rare and the diagnosis of Williams syndrome should be foremost when this is identified. Supravalvular aortic stenosis (SVAS) or coronary arterial stenosis are at risk of sudden death and complications.
Associated cardiovascular anomalies include peripheral pulmonary branch stenosis, mitral valve prolapse, and hypertension secondary to progressive renal artery stenosis.
Peripheral pulmonary branch stenosis tends to improve, and may even normaslise with time. The SVAS is progressive with age.
Idiopathic Hypercalcemia
The idiopathic hypercalcemia is often transient. Diseases probably related to the hypercalcemia include medullary nephrocalcinosis and pancreatitis.
Lab
idiopathic hypercalcemia
Imaging
Supravalvar Aortic Stenosis
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| 08233b01 Hx 4 year female with cocktail pesonality hearyt cardiac artery aorta supravalvular aortic stenosis supravalvar aortic stenosis Williams syndrome William’s syndrome |
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Supravalvar Aortic Stenosis
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