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Updated: May 18 2020

Angelman Syndrome

  • Snapshot
    • A 2-year-old girl with a history of seizure disorder presents to the pediatrician to establish care, as the family had just moved to a new city. Past medical records show that the patient has been on an anti-seizure medication since 1 years of age. There is no family history of seizures disorders. On physical exam, the girls head circumference is in the 10th percentile. She appears very happy, smiling, and laughing for no appreciable reason. She has not met the expected developmental milestones of a 2-year-old. She is also noted to have hand flapping behavior. She is referred to a geneticist.
  • Complications
    • Seizure disorder
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