Difference between revisions of "2011 Group Project 9"

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==History of the disease==
 
==History of the disease==
  
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===Timeline===
  
 
==Etiology==
 
==Etiology==

Revision as of 16:36, 27 August 2011

Note - This page is an undergraduate science embryology student group project 2011.
2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip




Your Project Goes Here.


2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

Williams-Beuren Syndrome

Introduction

Williams-Beuren Syndrome, more commonly known as William’s Syndrome, is a congenital anomaly caused by the deletion of 28 neighbouring genes on chromosome 7q11.23. [1] [2]

This multisystemic developmental genetic disorder implicates both pre-natal and post-natal physical, psychological, behavioural and medical defects, including diverse phenotypic characteristics such as:

  • distinctive facial deformities
  • a short stature
  • intellectual disabilities/mental retardation
  • cardiovascular abnormalities
  • infantile hypercalcemia
  • a unique personality and cognitive profile. [3] [4]

History of the disease

Timeline

Etiology

Diagnosis

Genetic Factors

Physical Characteristics

Associated medical conditions

Cardiac Abnormalities

Supravalvular aortic stenosis

Valvular aortic stenosis

Bicuspid aortic valve

Mitral valve prolapse

Mitral regurgitation

Coronary artery stenosis

Pulmonary valve stenosis

Atrial septal defect

Ventricular septal defect

Cognitive, Behavioural and Neurological Problems

Epidemiology

Management/treatment

Specialized Facilities/ supportive associations

Case studies

Interesting facts

Current research and developments

Glossary

References

  1. Morris CA (2010). ‘Introduction: Williams Syndrome’. American Journal of Medical Genetics. Part C, Seminars in medical genetics, Volume 154C, Issue 2, pp 203-208 PMID 20425781
  2. http://omim.org/entry/194050
  3. Morris CA (2010). ‘Introduction: Williams Syndrome’. American Journal of Medical Genetics. Part C, Seminars in medical genetics, Volume 154C, Issue 2, pp 203-208 PMID 20425781
  4. Ferrero GB et al. (2010). ‘An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient’. European Journal of Human Genetics, Volume 18, Issue 1, pp 33-38 PMID 19568270