Abstract
Williams syndrome, also known as Williams-Beuren syndrome (OMIM database entry 194050), is now known to be commonly associated with a hemizygous chromosomal deletion at 7.q11.23. The way in which the condition came to be recognized historically is reviewed along with some biographical details of the people involved.
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References
Pober BR (2010) Williams-Beuren syndrome. N Engl J Med 362:239–252
Kaplan P (2006) The medical management of children with Williams-Beuren syndrome. In: Morris CA, Lenhoff HM, Wang PP (eds) Williams-Beuren syndrome: research, evaluation and treatment. John Hopkins University Press, Baltimore, pp 83–106
Jones KL (1990) Williams syndrome: an historical perspective of its evolution, natural history, and etiology. Am J Med Genet Suppl 6:89–96
Fanconi G, Girardet P, Schlesinger R et al (1952) Chronic hypercalcaemia combined with osteosclerosis, hyperazotaemia and congenital malformations. Helv Paed Acta 7:314–349
Lowe KG, Henderson JL, Park WW et al (1954) The idiopathic hypercalcaemic syndromes of infancy. Lancet 267:101–110
Schlesinger RE, Butler NJ, Black JA (1956) Severe type of infantile hypercalcaemia. Br Med J 1:127–134
Denie JJ, Verheugt AP (1958) Supravalvular aortic stenosis. Circulation 18:902–908
Eisenberg R, Young D, Jacobson B et al (1964) Familial supravalvular aortic stenosis. Am J Dis Child 108:341–347
Williams J, Barratt-Boyes BG, Lowe JB (1961) Supravalvular aortic stenosis. Circulation 24:1311–1318
Beuren AJ, Apitz J, Harmjanz D (1962) Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 26:1235–1240
Hooft C, Vermassen A, Blancquaert A (1963) Observations concerning the evolution of the chronic form of idiopathic hypercalcaemia of infancy. Helv Paed Acta 18:138–147
Black JA, Bonham-Carter RE (1963) Association between aortic stenosis and facies of severe infantile hypercalcaemia. Lancet 282:745–749
Garcia RE, Friedman WF, Kaback MM et al (1964) Idiopathic hypercalcaemia and aortic stenosis. N Engl J Med 271(3):117–120
Black JA, Butler NR, Schlesinger RE (1965) Aortic stenosis and hypercalcaemia. Lancet 2:546
Ebeling J, Bette L, Schiefer I (1969) Cardiovascular changes and clinical aspects of hypercalcaemia in infants (Williams-Beuren syndrome). Arch Kinderheilkd 180:1–14
Borio AL, Dato AA, Rosato P (1972) 4 Cases of the Williams’ syndrome treated surgically with success. Boll Soc Ital Cardiol 17:205–208
Barratt-Boyes BG (2004) The early history of cardiac surgery in New Zealand. Heart, Lung and Circulation 12(Historical Supplement):S21-S28
Preus M (1984) The Williams syndrome: objective definition and diagnosis. Clin Genet 25:422–428
von Arnim G, Engel P (1964) Mental retardation related to hypercalcemia. Dev Med Child Neurol 6:366–377
Lenhoff HM, Perales O, Hickok G (2001) Absolute pitch in Williams syndrome. Music Percept 18:491–503
Ewart AK, Morris CA, Atkinson D et al (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5:11–16
Olson TM, Michels VV, Pastores GM et al (1993) Autosomal dominant aortic stenosis: localisation to chromosome 7. Hum Mol Genet 2:869–873
Olson TM, Michels VV, Urban Z et al (1995) A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. Hum Mol Genet 4:1677–1679
Meyer-Lindenberg A, Mervis CB, Berman KF (2006) Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nature Neurosci 7:393
Lenhoff HM, Teele RL, Clarkson PM et al (2010) John C. P. Williams of Williams-Beuren syndrome. Pediatr Radiol 41, doi:10-00627.R1(10.1007/s00247-010-1909-y
Taussig HB (1985) Obituary: Alois J. Beuren. Pediatr Cardiol 6:1–2
Zellweger H (1980) Guido Fanconi. J Pediatr 96:674–675
Anon (1984) B. E. Schlesinger. Br Med J 288:494–495
Bruins C, Dupuis C (2002) Dr. Anna Blancquaert, 1922–2001. Cardiol Young 12:203–204
Sforza T, Lenhoff H, Lenhoff S (2006) The (strangest) song: one father’s quest to help his daughter find her voice. Prometheus Books, Amherst, NY
Acknowledgements
We would like to thank Dr. Howard M. Lenhoff, Laiah Raphael, Dr. Sally Page, Melissa Solomon, Dr. Luke Gerke, Dr. Stephen Chang, Dr. Robert Marion, Dr. Robert Cowles, Thomas Morgan and Dr. Colleen Morris for assistance. Jane Choura provided much-appreciated secretarial assistance.
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Berdon, W.E., Clarkson, P.M. & Teele, R.L. Williams-Beuren syndrome: historical aspects. Pediatr Radiol 41, 262–266 (2011). https://doi.org/10.1007/s00247-010-1908-z
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DOI: https://doi.org/10.1007/s00247-010-1908-z