Shprintzen Syndrome Info?
Cory M Wisnia
cwisnia at eis.calstate.edu
Thu Dec 15 19:15:30 EST 1994
I recently received a request from a colleague about the above syndrome
(Shprintzen). It seems that she has a relative that suffers from this,
and the references are very slim --
RJ Shprintzen & RB Goldberg
And they're fairly old too. This is a Velocardio facial syndrome. And
there are by her reference source only 39 known cases. It appears to be
in some ways genetically linked. Her questions are:
How does someone "get" this syndrome?
What is known as to the genetic links?
Is it at all drug-use related? That is, is it is possibly contracted or
made active by use of legal or illegal medication?
Are there any newer references in the literature?
Just a note: This person knows that I use the internet a lot and thought
that this might be a good source of this kind of information. Alos, if
there is a netscape/mosaic site for this that would be great as well.
Thanks in advance.
California Science Implementation Network (CSIN)
Mendocino Middle School
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