Monday, April 6, 2009

CHH - The Facts

If you want to know more details about Cartilage Hair Hypoplasia then you might as well hear it from the experts:

http://www.nemours.org/hospital/de/aidhc/service/skeletal/disorder/hypoplasia.html

This hospital is the premier center for people with dwarfism. The head orthopedic Doctor there is the Director for the medical advisory board for Little People of America (LPA). If you have watched any shows on dwarfism (mostly on TLC) then you have probably seen the Doctors at this Hospital. Almost all of these shows feature this hospital at some point.

Eric

PS - If you want to get really technical then the Doctors that know the most about CHH are in Finland. However, most forms of CHH in Finland are exactly the same so unless you have that exact form you would probably not benefit from seeing them. When I say form I mean, variation. The symptoms from CHH can vary greatly from case to case. I'm not quite sure of anyone really knows why at this point. Possibly different parts of the RMRP gene are mutated?
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2 comments:

  1. SarahApril 7, 2009 at 11:49 AM

    Thanks for the link. Isn't it interesting how the skeletal dysplasias and things can affect features...and hair, and things like that? It's so interesting to me. Do you see Dr. McKenzie? That's who we've seen from there and hope will see again because I believe he's seen more patients with kaela's form of dwarfism then any doc in the US...

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