HUM-MOLGEN archive: DIAG:3 messages

************************************************************** 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 ====================================================================