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Angelman syndrome


Main Entry: An·gel·man syndrome
Pronunciation: \ˈan-jəl-mən-, ˈān-\
Variant(s): also An·gel·man's syndrome \-mənz-\
Function: noun
: a genetic disorder characterized by severe mental retardation, seizures, ataxic gait, jerky movements, lack of speech, microcephaly, and frequent smiling and laughter
Angelman, Harry (1915–1996), British pediatrician. Angelman began his career in pediatrics at Booth Hall Children's Hospital in Manchester, England. After serving with the Royal Medical Corps in India during World War II, he became a resident at the Royal Liverpool Children's Hospital. In 1950, he became a consultant pediatrician to a group of hospitals in Warrington. It was there in the early 1960s that he examined three children who seemed to be affected with the same genetic disorder. In the 1980s, the Angelman Syndrome Foundation was established in the United States. His description of the disorder was published in 1965, and the name Angelman syndrome subsequently came to be used.

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