| Title | [Happy puppet or Angelman's syndrome. Review apropos of 3 cases] | | Author(s) | Pascual Pascual SI, Campos Tullot R, Escudero B, García Simón R | | Source | An Esp Pediatr 1986 May; 24(5):311-6. | | MeSH | Adolescent
Child
Child, Preschool
Electroencephalography
English Abstract
Facial Expression
Female
Humans
Laughter
Male
Mental Retardation
Movement Disorders
Syndrome
| | Abstract | Angelman's or "happy puppet" syndrome is a disorder of unknown etiology characterized by severe or profound mental retardation with deepest involvement of language, frequent smile and laughter and a happy appearance of every patient. Constant somatic features are microcephaly with braquicephaly, wide face, prognathism, occipital flattening and protruding tongue. Their movements are incoordinated and ataxic, giving them a puppet-like aspect. Electroencephalographic abnormalities are constant and severe but they usually have sporadic epileptic seizures. Only about fifty cases have been reported, affecting both sexes and belonging to different continents and reaces, but authors think the disorder is more frequent. First three patients of Spanish literature are presented and findings of "happy puppet" syndrome are commented. | | Language | spa | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 3740666 |
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