XLINKED OR SLOS???

Posted by: Frock

XLINKED OR SLOS??? - 12/29/05 04:53 PM

I was wondering how many women who had the triple screen when pregnant were given high odds for SLOS (Smith-Lemley-Opitz Syndrome)?

I am pregnant with my third son, and I just had an amnio to rule out SLOS (results not back yet). Because my estriol was so low while my HCG and AFP were normal, they gave me odds of 1/10 for SLOS.

However, the genetic counselor told us it might very well be X linked ichthyosis, which I had never heard of.

Now that I've been researching it, however, I can pretty much say for sure that my first son, who is 3 and a half, has it.

We've always just been told it's "dry skin" or "Eczema", because it isn't very severe, except in winter, or if we forget to put lotion on for a couple of days in a row. It does look sort of "dirty", with brown scales around his ankles, wrists, sometimes just around the ears. His scalp is a trainwreck, but the hair covers all of those big scales.

What's interesting is that no doctors have pointed out the possibility of X linked, although judging from the pictures posted here, he has a classic case.

I took the triple screen with this son as well, but the results came back normal.

Do others of you have similar experiences? Did you have a case where your child has had X linked and your triple screen/AFP came back normal?

After seeing these photos, I feel it's unlikely that this pregnancy is SLOS- it seems X linked is more likely than anything, but it also kind of worries me that my AFP screening came back normal with my first son despite obvious his obvious ichthyosis.

(BTW- my second son, who is 2, had a clear AFP screening and shows no signs of X linked).

I'd be grateful for whatever rays of hope you can give a worried mom waiting on pins and needles for her amnio results!!!

Thanks.
Posted by: jrmiss86

Re: XLINKED OR SLOS??? - 12/29/05 09:44 PM

When I was pregnant with my son we were told not to even get the triple screen because we knew that if my son had the x-linked deletion than the estriol count would be low. We went directly to the amnio to find out about the x-linked and another syndrome that he has called Kallmans syndrome, which often occurs with x-linked.

Hope all goes well

Heather
Posted by: threerxli

Re: XLINKED OR SLOS??? - 01/01/06 03:02 AM

My estriol with my second son was zero, and with my third son .02. I do not remember the other results to the screening.
The doctors always told me my oldest sons skin was dry and to lotion him more, I would say "I do lotion him", they would just nod. All three of my boys have x linked ichthyosis. We did not know our oldest had it..he was born in 1994 because the doctors did not do that type of testing at the time. I had an amnio with my second pregnancy that pin pointed x linked ichthyosis after the blood screen came back zero estriol. When I was pregnant with my thrid son, and had a new OB?GYN because we had moved to a new state, even though my medical records stated "carrier for x linked ichthyosis", my new doctor still wanted to preform more tests and amnio, etc after my third pregnancy had.02 estriol. Which is very low.
The amnio can tell you for sure if its just x linked or not. Slos was mentioned to me, but because my two older boys had a confirmed diagnosis, I did not have any further testing done. I dont know if your oldest has it or not, but we only found out our oldest did, when the second pregnancy was diagnosed. I hope this helps. I will be thinking about you and your boys..I have been there.