You'll find hundreds of files on cleft lip, cleft palate here on widesmiles.org.

This one is about: Pierre Robin - One Mom Questions the Causes

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Over the period of a few weeks, various parents of children with Pierre Robin discussed things. This is the 2nd in a series of 6. If you would like to meet some of these parents I suggest you join Cleft-Talk - the email discussion group.

Wow, what a great discussion! I guess I should tell you that James never suffered from glossoptosis (the tongue thingy), but he did actually have a rather petite jaw, that has since grown. And, like I said earlier, his breathing was somewhat affected when he was really young. Ah, the ambiguities!! I admit to still being somewhat confused, because like Joanne said (I think it was you, Joanne!) you've got all these gray areas to deal with when making a diagnosis.

Joanne, you mentioned that PRS can have many causes. Could y'all tell me some of them? We have no history of any clefting (that I know of) in either of our families.

And Chottsie, I'm really looking forward to hearing more about anything you learn on genetics and PRS in general. I think I'm going to surf around now myself, and see if I can find that website you mentioned.

Oh, one more thing. Like I mentioned in my last post, does it really matter now if I ever find out for sure if he has PRS or not? It seems like the bulk of hard times is over. But, I guess I'd still like to know. I'd hate to think he was misdiagnosed.

Thanks Again!!!!

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"Here's one for you: how do they diagnose Pierre Robin Syndrome?"

Yes - it is possible to have a cleft palate by itself without the Pierre Robin Sequence. It's also not really called a 'Syndrome' anymore but more so a 'Sequence', as it is a sequence of events that produces the pierre-robin difficulties not so much one problem, like in say Down's syndrome.

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"Could y'all tell me some of them? We have no history of any clefting (that I know of) in either"

Basically they boil down to either genetics or environmental (basically the environment of the womb.)

Genetics: There are several syndromes that can include symptoms of Pierre Robin. The most common is Sticklers - which is estimated to occur in 30% of all Pierre Robin cases. There are also some syndromes that affect bone development, including some forms of dwarfism that will lead to Pierre Robin.

Environment: Generally talking fetal position here. Chin is tucked too far in to allow the tongue to drop down. This form of PR is not at present thought to be passed on.

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You know, it probably doesn't matter at this point other than for the sake of knowing one way or another. If there are no complications that may have been caused from him having a hard time breathing it really wouldn't matter at this point.

Ok, so he did have a petite jaw did he. I have to show you a picture of Justine. I'm going to try and send ones of her in her Halloween costume if they come out good. The Zachary with PRS that is in the Gallery looks like they could be twins. It's so cute. I couldn't believe it when I saw his pictures. Justine's jaw is growing but still has a ways to go. It should be in normal proportion eventually.

Did James make squeaky noises when he was an infant? Justine constantly squeaked with every breath I think. Something interesting, Vincent (4 yr old brother) squeaked a lot too though not as much as his sister.

Some causes are positional (maybe the chin is tucked during gestation) that we always talk about. Genetics. And I did read that drugs taken by the mother but I don't know which ones or anything.

We don't have a history of clefts either. This was a total surprise to us. When they told me she had a cleft palate I thought the woman was lying. I kept thinking if she has a cleft palate what does that have to do with her breathing. She was on an antibiotic because my water broke too long before she was born. They thought she had that lung infection they can get. (Does anyone know what it's called?)

I like these great discussions don't you!

As far as James not having the tongue thingy maybe you just weren't aware of it. I kind of took it for granted that Justine just didn't stick her tongue out. If the doctors didn't mention it to me I probably wouldn't have noticed it. Her tongue was way back there but I would've thought because she has such a tiny mouth. I think the U shaped (or horse shoe shaped) cleft indicates the tongue was back there in the way.

Who knows, we might get to the bottom of this yet. Then we could add James to the PRS list.

To search for info you can use any search engine. I like Yahoo it seems quicker. Type it in like this "pierre robin". Making sure you put quotes around or you'll get all kinds of stuff that doesn't pertain. I made that fatal mistake.

Let me know what you find. I'm still working on that list of URLs.

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Hi, Does that mean we would say Justine has Pierre Robin 'Syndrome' because her difficulties with breathing were caused by her 'Sequence' symptoms? Do you know that would actually make sense to me. At this point we don't
know what caused the 'Sequence'.

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"Does that mean we would say Justine has Pierre Robin 'Syndrome' because her"

No, you would say that Justine has the 'Pierre Robin Sequence' because her symptoms were caused in a sequence of events. i.e this caused that which then caused that which may then have caused that. It's different to a 'Syndrome' where one thing (like say a chromosome problem) causes a lot of things at once.

If you look in text books, 'Syndromes' tend to have the particular chromosome problem listed, such as a deletion on the long arm of chromosome 5, for example. With 'Sequences' it's not as common to find any chromosome problems. Does that make sense?

"At this point we don't know what caused the 'Sequence'."

No, and often it isn't known. With respect to Pierre-Robin Sequence vs. Pierre-Robin Syndrome, I think we all agree that it's the same thing - and yes the name is irrelevant.


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