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Angelman syndrome: Consensus for diagnostic criteria
TLDR
This work aims to provide a clear picture of the evolutionary history of Angelman Syndrome and its drivers, which has implications for diagnosis, prognosis and treatment.
‘Puppet’ Children A Report on Three Cases
Three unrelated children are described with similar physical abnormalities of congenital origin, reminiscent of puppet children, and profound mental retardation.
Syndrome of Coloboma with Multiple Congenital Abnormalities in Infancy
  • H. Angelman
  • Medicine
    British medical journal
  • 29 April 1961
TLDR
It seems that the basic abnormality in these patients is vascular, the occurrence of telangiectases being distinguished by a hyperplasia of glomus-type cells irregularly scattered in the walls.
Syndrome of Obstruction of Inferior Vena Cava in Childhood
TLDR
A girl aged 4 years 10 months attended the out-patient department in March, 1949; her parents had noted the development of enlarged veins over her abdomen when she was 18 months old, and at the age of 31 years a dilated vein became apparent along the inner side of her right leg.