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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: DIAG:3 messages
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Wed, 25 Jun 1997 17:26:27 +0500

**************************************************************
          HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************


This DIAG message contains 3 submessages:

1.Familial Histiocytic Reticulosis (Omenn syndrome)

2.Hypochondroplasia/Spinal patterning

3.Ehlers-danlos Syndrome


Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section

==================================================================

1.Familial Histiocytic Reticulosis (Omenn syndrome)

Dear colleagues,

We have been approached by a family who had 2 children with Familial
Histiocytic Reticulosis (Omenn syndrome). Both children died of the
disease. The mother is pregnant  again. Does anyone have experience or
knowledge regarding prenatal diagnosis?

Please reply to my E-mail address mfrydman@post.tau.ac.il or by fax to
972-3-5302914.

Thanks for your help.

Moshe Frydman MD
==========================================================

2. Hypochondroplasia/Spinal patterning

We have a family with borderline dwarfism with interesting skeletal/spinal
abnormalities. In all 3 affected generations 2 hemivertebrae are found on
opposite sides of the spine (plus other spinal/bony defects). These 2
hemivertebrae always appear with an identical spinal distance between the
hemivertebrae (a recurring period of 6 vertebrae).
We are interested in defining the cause of the periodic nature of these
defective skeletal elements. We are keen for suggestions or collaborations
into this phenotype. We thought the first step would be to investigate an
FGFR link. Any suggestions would be appreciated?

Raymond (R.Clarke@unsw.edu.au)


Dr Raymond Clarke
St George Hospital
r.clarke@unsw.edu.au
=======================================================================
3. Ehlers-danlos Syndrome

Dear Colleagues,

I am  interested in receiving any educational information or available
literature  associated with  the rare condition ehlers-danlos syndrome.
A response from anyone currently researching this condition
will be greatly appreciated. I look forward to receiving your comments
and or questions .
For those who are interested please respond to the email address given below.

 Thank you,
 Ms. Tonya Ann
 E-Mail   kokopeli@OUTWEST.NET
====================================================================


   
 
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