Guest guest Posted August 29, 2002 Report Share Posted August 29, 2002 Hi , We went to the geneticist who feels that doesn't have any particular type of "syndrome"; we are just the recipient of some wacky genes that cause microtia and atresia. In our particular case, there is at most a 14-25% chance of having another child with the same things. Fortunately, has had a normal renal ultrasound; we are still waiting to do the cardiac work up but so far, the lil' guy is doing well. We were able to rule out (by clinical evaluation) BOR syndrome as well. In our particular case, the gene appears to be autosomal dominant with variable and incomplete penetrance. Hope this helps. Lili (, 15 weeks, bilateral microtia/atresia) Re: hearing tests I too would be interested in anything you find out from a geneticist. I just found out this weekend that my father's cousin has microtia and his aunt believes that a great (great?) grandfather or someone like that had it too. I couldn't believe it, since none of us had any idea (the cousin always kept her hair long). We'd never even heard of it until Miles was born.Thanks,(mother of Miles, 5 months, microtia/atresia right side)> I'm not sure if any of you have had this experience, but I recently found> out that my husband has two paternal aunts with microtia/atresia and another> uncle's grandkid with the same thing in China. Does anyone know of any> geneticists that they would recommend? And for those of you who have found> a genetic link, what are the odds of having another child with> microtia/atresia?> > It sounds like there is definitely a genetic link in your husbands family.> I would be interested in hearing what a geneticist has to say about this.> As for the odds of having another child with Microtia/Atresia, a first guess> would be to count up all the aunts/uncles/kids/grandkids on your husbands> side, and you have 4 occurrences. Not exactly scientific, but it would give> you a first guess at the odds.> > I have only come across one family that has more than one child affected> (2 of 3 children had bilateral atresia). But then again, most people I have> come across don't have any history of it in their families.> > Steve Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 29, 2002 Report Share Posted August 29, 2002 Hi , We went to the geneticist who feels that doesn't have any particular type of "syndrome"; we are just the recipient of some wacky genes that cause microtia and atresia. In our particular case, there is at most a 14-25% chance of having another child with the same things. In our particular case, the gene appears to be autosomal dominant with variable and incomplete penetrance. How did they come up with this? I am curious. Do they know in particular what gene, and that this is in fact the case? Or did they infer this from the absence of any other syndrome? In our genetic counseling, they said since they cannot determine the exact reason why, they cannot state exactly what the chances were for us having another child with the same, or the chances of passing it on to his children. Steve Quote Link to comment Share on other sites More sharing options...
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