Recurrence risk in the Angelman ("happy puppet") syndrome

Am J Med Genet. 1987 Aug;27(4):773-80. doi: 10.1002/ajmg.1320270405.

Abstract

We report on two sibs with Angelman "happy puppet" syndrome. Out of 48 families reported in the literature, this is only the fourth family with affected sibs. A review of the literature shows a low but not negligible recurrence risk. Different explanations for this are discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Gait*
  • Humans
  • Intellectual Disability / genetics*
  • Laughter
  • Male
  • Movement Disorders / genetics
  • Prognathism / genetics
  • Recurrence
  • Risk
  • Speech Disorders / genetics*
  • Syndrome