[Angelman syndrome].
An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient. The incidence of the Angelman-syndrome may be underestimated.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002648:Child; D004569:Electroencephalography; D004832:Epilepsy, Absence / Q000175:diagnosis*; D005071:Evoked Potentials; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D007845:Laughter; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis; D013577:Syndrome
Das Angelman-Syndrom.