title: [Williams-Beuren syndrome: presentation of 82 cases].
abstract: OBJECTIVE
  We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (WBS) and associated diseases.
  
  
  METHODS
  A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retardation and/or congenital cardiopathy were included. The patients were studied mainly from a neurological and cardiological point of view, and secondarily because of endocrinological and nephrological problems. Since description of the chromosomal abnormalities provoking the syndrome, we perform karyotyping in all patients with suspected WBS.
  
  
  RESULTS
  Alterations mainly consisted of distinctive facial appearance (100 %), mental retardation with friendly behavior (90 %), congenital cardiopathy (85.4 %), mostly consisting of supravalvular aortic stenosis (72 %), with (12 %) or without (60 %) pulmonary stenosis, and behavior typical of attention deficit-hyperactivity disorder, which usually manifested at the age of 4 to 5 years in both boys and girls. Approximately 90 % started to walk and speak later than average. Birthweight was below 3000 g in 65 % of the patients in whom this datum was included in the medical record. Eleven of the 13 patients (84.5 %) studied showed the typical deletion of WBS.
  
  
  CONCLUSIONS
  Study of patients with WBS should be multidisciplinary. Most patients require help during schooling and subsequent vocational guidance.
authors.affiliation: Servicios de Neurología Pediátrica, Hospital Universitario La Paz, Orense 14, 10o E.28020 Madrid, Spain. pascas@inves.es
authors.forename: I
authors.initials: I
authors.lastname: Pascual-Castroviejo
authors.forename: S I
authors.initials: SI
authors.lastname: Pascual-Pascual
authors.forename: F
authors.initials: F
authors.lastname: Moreno Granado
authors.forename: L
authors.initials: L
authors.lastname: García-Guereta
authors.forename: R
authors.initials: R
authors.lastname: Gracia-Bouthelier
authors.forename: M
authors.initials: M
authors.lastname: Navarro Torres
authors.forename: A
authors.initials: A
authors.lastname: Delicado Navarro
authors.forename: D
authors.initials: D
authors.lastname: López-Pajares
authors.forename: R
authors.initials: R
authors.lastname: Palencia Luaces
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D018980:Williams Syndrome / Q000175:diagnosis / Q000503:physiopathology