Thursday, August 28, 2014

Interesting article on hypochondroplasia and seizures

Because Fi is settling in creche so well and the other two are at gymnastics, I have an hour to catch up on work, tidy the house, cook... OK to share this article abstract I saw a while back. Here is the link

Dr Antonio Romeo asks the question:

Does the Co-occurrence of FGFR3 Gene Mutation in Hypochondroplasia, Medial Temporal Lobe Dysgenesis, and Focal Epilepsy Suggest a Syndrome?


And I think the answer is probably: no, it doesn't indicate a syndrome, unfortunately we know of too many families where children with HCH had temporal lobe dysgenesis and seizures. 

If anyone can get the full article, I would be grateful.

- Update- I got the article. If anyone is interested, message me. 

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