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Williams-Beuren syndrome
Also known as:
Beuren’s syndrome
Fanconi-Schlesinger syndrome
Williams' elfin face syndrome
Williams’ syndrome
Williams-Barratt syndrome
Williams-Beuren syndrome
Associated persons:
Sir Brian Gerald Barratt-Boyes
Alois J. Beuren
Guido Fanconi
Bernard Schlesinger
J. C. P. Williams
Description:
A congenital syndrome of characteristic elfinlike facies, mental retardation, growth deficiency, cardiovascular anomalies (supraventricular aortic stenosis), and idiopathic infantile hypercalcaemia. Various degrees of hypotonia; easy fatigability; occasionally, chest pain and syncope; bilateral corneal opacities, tooth enamel hypoplasia, malocclusion, cavities. Affects both sexes. Onset at birth or early infancy. Feeding problem, anorexia, vomiting, slow weight gain, retarded physical and mental development. Unusual personality, whereby the affected children are overly friendly and loquacious, is a main neurological features
Bibliography:
- J. L. H. Langdon-Down:
Observations on an Ethnic Classification of Idiots.
Clinical Lectures and Reports by the Medical and Surgical Staff of the London Hospital, 1866.
- G. Fanconi, P. Giardet, B. Schlesinger, H. Butler, J. S. Black:
Chronische Hyperkalzämie kombiniert mit Osteoskleroe, Hyperazotämie, Minderwuchs und kongenitalen Missbildungen.
Helvetica paediatrica acta, Basel, 1952, 7: 314-341.
- J. C. P. Williams, B. G. Barratt-Boyes, J. B. Lowe:
Supravalvular aortic stenosis.
Circulation, Dallas, Texas, 1961, 24: 1311.
- J. Beuren, J. Apitz, D. Harmjantz:
Supravalvular aortic stenosis in association with mental retardation and certain facial appearance.
Circulation, Dallas, Texas, 1962, 26: 1235-1240.
- J. Beuren:
Ein neues Syndrom: Supravalvuläre Aortenstenose, multiple periphere Pulmomalstenosen, geistige Retardation, ähnliche Gesichtszüge und identische Zahnmissbildungen.
Monatsschrift Kinderheilkunde, Berlin, 1964, 112: 218-221.
Suprvalvular aortic stenosis: A complex syndrome with and without mental retardation.
Birth Defects Original Article Series, New York, 1972, 8 (5): 45-56.
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