Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Udhani C, Yap J, et al. Williams syndrome. Reference article, Radiopaedia.org (Accessed on 04 Oct 2024) https://doi.org/10.53347/rID-9090
Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features:
Pathology
Genetics
A deletion of chromosome band 7 that encodes the elastin gene is thought to be present in ~95% of cases 1. It is predominantly a sporadic inheritance.
Williams syndrome is a rare cause of medullary nephrocalcinosis 5 and middle aortic syndrome 6.
History and etymology
Williams syndrome was first identified in 1961 by John Cyprian Phipps Williams (1922-fl.1970s), a New Zealand cardiologist, who was a rather eccentric individual. He was last seen alive in the mid 1970s in Salzburg in Austria. Interpol were unable to locate Dr Williams after a request from his sister and in 1988 the High Court of New Zealand decreed that he was “a missing person presumed to be dead from 1978” 4,7.
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1. Kuo R, Shih S, Huang J. On the AJR Digital Viewbox. Bilateral Pulmonary Sequestration with Bridging Isthmus in a Boy with Williams Syndrome. AJR Am J Roentgenol. 2006;187(1):W133-4. doi:10.2214/AJR.05.1236 - Pubmed
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2. Gilkeson R, Ciancibello L, Zahka K. Pictorial Essay. Multidetector CT Evaluation of Congenital Heart Disease in Pediatric and Adult Patients. AJR Am J Roentgenol. 2003;180(4):973-80. doi:10.2214/ajr.180.4.1800973 - Pubmed
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3. Gupta H, Mayo-Smith W, Mainiero M, Dupuy D, Abbott G. Helical CT of Pulmonary Vascular Abnormalities. AJR Am J Roentgenol. 2002;178(2):487-92. doi:10.2214/ajr.178.2.1780487 - Pubmed
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4. Williams J, Barratt-Boyes B, Lowe J. Supravalvular Aortic Stenosis. Circulation. 1961;24(6):1311-8. doi:10.1161/01.cir.24.6.1311 - Pubmed
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5. Shultz P, Strife J, Strife C, McDaniel J. Hyperechoic Renal Medullary Pyramids in Infants and Children. Radiology. 1991;181(1):163-7. doi:10.1148/radiology.181.1.1887027 - Pubmed
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6. Morris C. Williams Syndrome. 1993. - Pubmed
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7. Lenhoff H, Teele R, Clarkson P, Berdon W. John C. P. Williams of Williams-Beuren Syndrome. Pediatr Radiol. 2011;41(2):267-9. doi:10.1007/s00247-010-1909-y - Pubmed
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8. Pober B, Lacro R, Rice C, Mandell V, Teele R. Renal Findings in 40 Individuals with Williams Syndrome. Am J Med Genet. 1993;46(3):271-4. doi:10.1002/ajmg.1320460306 - Pubmed
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9. Gupta V, Pandita A, Panghal A, Kallem V. Williams Syndrome with Severe Hypercalcaemia. BMJ Case Rep. 2018;2018:bcr-2018-224513. doi:10.1136/bcr-2018-224513 - Pubmed
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