William's Syndrome: Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
William’s Syndrome, also known as Williams-Beuren Syndrome was first recognized as a unique disorder in 1961. J.C.P. Williams observed in four patients an association between supravalvular stenosis and the common physical and mental characteristics of this patient population and stated that it “may constitute a previously unrecognized syndrome”.1 Later, A.J. Beuren described eleven new patients with the characteristics described by Williams and the disorder became known as Williams-Beuren Syndrome. Diagnosis of the syndrome can be made at birth based on physical characteristics, but a true medical diagnosis is confirmed following a diagnostic test called fluorescence in situ hybridization (FISH).1 The test reveals a recurring micro-deletion, with a size of 1,551,83 Mb, on chromosome band 7q11.23, which contains 24-28 genes.2-4 The deleted part of the chromosome band includes the elastin gene, which leads to serious cardiovascular complications.5<br> | |||
== Prevalence == | == Prevalence == | ||
Revision as of 02:37, 18 March 2011
Original Editors - Julie Frederick from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Lead Editors - Your name will be added here if you are a lead editor on this page. Read more.
Definition/Description[edit | edit source]
William’s Syndrome, also known as Williams-Beuren Syndrome was first recognized as a unique disorder in 1961. J.C.P. Williams observed in four patients an association between supravalvular stenosis and the common physical and mental characteristics of this patient population and stated that it “may constitute a previously unrecognized syndrome”.1 Later, A.J. Beuren described eleven new patients with the characteristics described by Williams and the disorder became known as Williams-Beuren Syndrome. Diagnosis of the syndrome can be made at birth based on physical characteristics, but a true medical diagnosis is confirmed following a diagnostic test called fluorescence in situ hybridization (FISH).1 The test reveals a recurring micro-deletion, with a size of 1,551,83 Mb, on chromosome band 7q11.23, which contains 24-28 genes.2-4 The deleted part of the chromosome band includes the elastin gene, which leads to serious cardiovascular complications.5
Prevalence[edit | edit source]
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Characteristics/Clinical Presentation[edit | edit source]
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Associated Co-morbidities[edit | edit source]
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Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
The most common test used to diagnose William’s Syndrome is fluorescence in situ hybridization (FISH).1 Other tests to diagnose systemic complications include: electrocardiogram, ultrasonography, Tc-pertechnetate thyroid scinitgraphy, thyroid function tests,
Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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