Eber S W, Joost S, Gabriel M
Monatsschr Kinderheilkd. 1986 Mar;134(3):158-60.
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.
本文描述了一名患有安吉尔曼(快乐木偶)综合征的8岁男孩。该综合征几乎所有典型症状,尤其是严重的精神运动发育迟缓,伴有自发的大笑、伸舌、手足徐动症、典型脑电图及小头畸形,均可在我们的患者中发现。安吉尔曼综合征的发病率可能被低估了。