Williams-Beuren syndrome; Williams syndrome
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Epidemiology
rare
Pathology
- supravalvular aortic stenosis
- dilated thick-walled coronary arteries
- premature atherosclerosis
- musculoskeletal abnormalities
Genetics
- hemizygous contiguous gene deletion syndrome of 7q11.23 including
- haploinsufficiency resulting from gene deletion may be involved in certain features
- also see Williams-Beuren syndrome chromosome region
- other associated genes: LAT2
Clinical manifestations
- elfin facies
- mental retardation
- systemic hypertension
- loquacious (talkative) personality, overfriendliness
- hoarse voice
- lack of depth perception
- inability to visualize how parts assemble into larger objects
Laboratory
More general terms
Additional terms
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 39
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1039
- ↑ Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci. 2009 Apr;66(7):1178-97. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19039520 PMCID: PMC11131529 Free PMC article. Review.