Pitt Hopkins Syndrome

A presentation of the Pitt Hopkins Syndrome.

Transcript

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
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5. Rare genetic disorder • developmental delay • epilepsy • distinctive facial features • hyperventilation • Apnea Pitt Hopkins awareness day: September 18th
13. At your disposal for clarification