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.

Cory Wisnia
Staff Developer
California Science Implementation Network (CSIN)
Mendocino Middle School
Mendocino CA
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