Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders.


Pitt-Hopkins syndrome is characterized by marked intellectual impairment, hyperventilation episodes, and dysmorphic facial features. This article reports a boy who presented with developmental delay, facial dysmorphism, microcephaly, hypotonia, and areflexia. He was initially diagnosed with Charcot Marie Tooth disease type 1A based on family history and… (More)
DOI: 10.1177/0883073812437242

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