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Williams Syndrome

Williams Syndrome

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Williams Syndrome

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  1. Williams Syndrome Mary Bystrek

  2. Williams Syndrome • Autosomal dominant disorder • Occurs in approximately one of every 20,000 births • Variability in expressivity www.specialchild.com/ archives/dz-004.html

  3. Overall Cause • Spontaneous deletion on chromosome band 7q11.23. • Deletion removes more than 20 genes that encode for different functions. www.turkotek.com/ salon_00097/salon.html

  4. Problems associated with WS • Heart & Blood Vessel Defects • Supravalvular aortic stenosis • High blood pressure • Hypertension • Hypercalcemia www.aic.cuhk.edu.hk/ web8/Heart%20diagrams.htm

  5. Problems associated with WS • Vascular & Connective Tissue Deficiency • Gene that encodes for elastin is deleted • Kidney Defects • Stenosis of the renal arteries • Hernias • Groin & umbilical hernias are more frequent in WS patients.

  6. Psychological Effects • Mental Retardation • Behavior Characteristics • “Cocktail Party” personality • Memory loss • Learning Disabilities • Neurological Problems • Auditory & Verbal • Sensitive hearing • Amazing musical abilities msnbc.msn.com/id/3069769/

  7. Physical Characteristics • Facial Characteristics • Growth • Voice • Dental Abnormalities home.sc.rr.com/cmindel/

  8. Diagnosis • FISH (fluorescent in situ hybridization) • Most common method of testing for WS • Analyzes specialized chromosomes by using specially prepared elastin probes • The FISH test will show only one copy of the elastin gene in patients with WS. • Detects deletion of the gene more than 98% of the time

  9. Treatment • No actual cure • Support groups, including the Williams Syndrome Association • Therapies (music, horseback riding, etc.) • Special teacher & parent info www.williams.ngo.hu/ udvozlet/zsofi.jpg

  10. References • Bower, Bruce. (2004). A Very Spatial Brain Defect. Science News, Vol. 166, Iss. 11. 165 – 167. • Cagle et al. (2004). Severe Infantile hyperclacemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate. Pediatrics, Vol. 114 No. 4, 1091-1095. • Dhillon et al. (1998). Acquired coarctation of the aorta in Williams Syndrome. Heart, 80, 205-207. • Doyle et al. (2004). “Everybody in the world is my friend” hypersociability in young children with Williams syndrome. American Journal of Medical Genetics, 124 (3), 263-273. • Eronen et al. (2002). Cardiovascular manifestations in 75 patients with Williams syndrome. Journal of Medical Genetics, 39, 554-558. • Fanconi et al. (1952). Chronische Hypercalcaemie. Helv. Paediat. Acta, 7, 314-334. • Kaplan et al. (1995). Cerebral artery stenoses in Williams syndrome cause strokes in childhood. Journal of Pediatrics., 126, 943 – 945. • Pasternak, J.J. An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases. 2nd ed. New Jersey: Wisley, 2005. pp 543 – 545. • Williams Syndrome Association: http://www.williams-syndrome.org