[Williams-Beuren syndrome: presentation of 82 cases]. / Síndrome de Williams-Beuren: presentación de 82 casos.
An Pediatr (Barc)
; 60(6): 530-6, 2004 Jun.
Article
en Es
| MEDLINE
| ID: mdl-15207164
ABSTRACT
OBJECTIVE:
We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (WBS) and associated diseases. MATERIAL ANDMETHODS:
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.CONCLUSION:
Study of patients with WBS should be multidisciplinary. Most patients require help during schooling and subsequent vocational guidance.
Buscar en Google
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Williams
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
Es
Revista:
An Pediatr (Barc)
Asunto de la revista:
PEDIATRIA
Año:
2004
Tipo del documento:
Article
País de afiliación:
España