Posted by Laurie on 6/25/2008, 2:26 pm, in reply to "sticklers test?"
68.37.25.8
My son wqas diagnosed with Sticklers Type II via genetic testing. They found a mutation of the COLIIA1 gene. I have the actual report. I have no idea what your doctor means. I would inquire further.
--Previous Message--
: Is there a test that can be done to check for
: sticklers? Our doctors and our geneticist
: keep telling us it's an isolated case of PRS
: with our son. But we can't help a slight
: tinge of paranoia when we look at some of
: the stats. He doesn't have any symptoms so
: far beyond the chin and palate. However,
: he's only 5 weeks old. We are getting tested
: for another syndrome, the name of which
: escapes me. But when asked about sticklees,
: the geneticist said there is "no such
: test". Those of you who have children
: with sticklers, how was it diagnosed?
:
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