- A dictionary of medical eponyms

Pitt-Hopkins syndrome

Related people

A genetic disorder characterized by mental retardation, a wide mouth and distinctive facial features.

Description

A genetic disorder characterized by mental retardation, a wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. It is associated with an abnormality within chromosome 18. The condition was first described in 1978 by Pitt and Hopkins in two unrelated patients.

 

Bibliography

David Pitt and Ian Hopkins:
•  A syndrome of mental retardation, wide mouth and intermittent
   overbreathing.
   Australian Paediatric Journal, Melbourne, 1978, 14 (3): 182-184.

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