Williams-Beuren syndrome: historical aspects

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.

Incontinence in children, adolescents and adults with Williams syndrome

“…The prevalence lies round 1:10000 . The syndrome was independently described by John Williams in New Zealand and Alois Beuren in Germany in the early 1960's …”

Cleft palate in Williams syndrome

“…Then Anna Blancquaert, Belgian pediatric cardiologist, was the first to point out the similarity of the facies in patients with idiopathic hypercalcemia of infancy and those with SVAS and mental retardation. [3] In 1961, J.C.P. Williams described for the first time a new unrecognized syndrome, the association of SVAS and mental retardation with distinctive facial appearance and “friendly” personality in four nonconsanguineous children.…”

Williams Syndrome and Music: A Systematic Integrative Review

“…The earliest accounts of Williams syndrome (WS) were identified in descriptions of case studies with two seemingly unrelated sets of characteristics (see Berdon et al, 2011 —for review). In the 1950s, cases were reported of infantile hypercalcemia, failure to thrive, a distinctive facial appearance, and developmental delays (Schlesinger et al, 1956 ; Bongiovanni et al, 1957 ).…”

“…In the early 1960s, cases identified by New Zealand cardiologist John C. P. Williams and German physician Alois Beuren were characterized by supravalvular aortic stenosis (SVAS) along with a similar presentation of persistent growth failure, distinctive facial appearances, developmental delays, and an overly-friendly personality (Williams et al, 1961 ; Beuren et al, 1962 ). By the mid-1960s, case reports describing individuals with both hypercalcemia and SVAS, along with other features common to both phenotypes, suggested that these seemingly unrelated presentations were variations of the same phenotype (Berdon et al, 2011 ).…”