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Pitt Hopkins Syndrome

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Avatar for Vasileios Kolorizos Vasileios Kolorizos
June 05, 2018
Education
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Pitt Hopkins Syndrome

A presentation of the Pitt Hopkins Syndrome.

Avatar for Vasileios Kolorizos

Vasileios Kolorizos

June 05, 2018
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Transcript

  1. None
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  3. • Pediatrician David Pitt & pediatric neurologist Ian Hopkins in

    Melbourne • Monitored 2 unrelated children • Severe intellectual disability • Awake with rapid over breathing • Identical facial features, wide mouth and palate, thick fleshy lips, broad nose and clubbing of fingers and toes

  4. contactin

  5. Rare genetic disorder • developmental delay • epilepsy • distinctive

    facial features • hyperventilation • Apnea Pitt Hopkins awareness day: September 18th
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  13. At your disposal for clarification