Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Más filtros











Base de datos
Intervalo de año de publicación
1.
Eur J Pediatr ; 160(2): 123-7, 2001 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-11271384

RESUMEN

UNLABELLED: Deletions on the short arm of chromosome 4 cause Wolf-Hirschhorn syndrome (WHS) and Pitt-Rogers-Danks syndrome (PRDS). WHS is associated with severe growth and mental retardation, microcephaly, a characteristic facies and congenital malformations. The PRDS phenotype is similar to WHS but generally less severe. Seizures occur in the majority of WHS and PRDS patients. Sgrò et al. [17] described a stereotypic electroclinical pattern in four unrelated WHS patients, consisting of intermittent bursts of 2-3 Hz high voltage slow waves with spike wave activity in the parietal areas during drowsiness and sleep associated with myoclonic jerks. We report a patient with PRDS and the typical EEG pattern and review 14 WHS patients with similar EEG findings reported in the literature. CONCLUSION: Awareness and recognition of the characteristic electroclinical findings in Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome might help in the early diagnosis of such patients.


Asunto(s)
Anomalías Múltiples/fisiopatología , Cromosomas Humanos Par 4 , Electroencefalografía , Epilepsia/fisiopatología , Eliminación de Gen , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Preescolar , Cromosomas Humanos Par 4/genética , Epilepsia/genética , Humanos , Hibridación Fluorescente in Situ , Síndrome
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA