This one is about: Discussion on Diagnosing Pierre Robin
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Over the period of a few weeks, various parents of children with Pierre Robin discussed things. This is the first 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.
Here's one for you: How do they diagnose Pierre Robin Syndrome? I ask this because it's been nagging at me for almost a year now. James was born with what they called a horseshoe cleft, and they said it could have happened because his tongue was in the way, and the palate never could close around it when he was in the womb. Also, thinking back, he did seem to have some breathing problems when he slept on his back as a newborn (like not being able to draw in any air, until finally it would wake him enough to shift positions! We then tried to keep him on his side). Also, when he was in for his g-button surgery, the anesthesiologist mentioned that he had trouble intubating him, and blamed it on James having a small airway. (although I think the guy was just lame). He was the one who first brought up the possibility of Pierre Robin with me, but when I asked the plastic surgeon about it, he said James didn't have it. I'm so confused! Is it possible to have just a cleft palate by itself, and not have PRS? And does it even matter now that James is almost 1 1/2 yrs. old, and through the worst of it? Maybe I just "need" something to worry about, but any help would be greatly appreciated. Thanks!
Pierre Robin is diagnosed when there is a horseshoe-shaped cleft of the palate and a small lower jaw. The tongue is most often too large for the resulting space, can be set way back, and CAN on occasion actually be too small. There is no blood test or anything else quite that objective. It is simply diagnosed by observing the horseshoe-shaped cleft and small lower jaw (with or without tongue and/or breathing problems.)
If James had the PR cleft and the small jaw, I'm surprised anyone would have questioned the diagnosis. Yes, you can have a cleft palate and it NOT be PR, but in those cases, the cleft is generally a straight line separating the two halves (or three parts) or it is a V-shape splitting the middle. And the jaw is normal proportioned and there are no breathing problems associated with how the baby is positioned.
Given what you've told us about James, my guess would have immediately been Pierre Robin - it fits the definition to a T.
Probably because if his breathing problems weren't real noticeable it wasn't diagnosed. Justine and most likely the rest born with PRS could not lay on her back at all. She even had trouble being prone at first. Her oral feeding tube assisted in keeping her tongue down until she learned to manage it on her own. The breathing problems really indicates that the tongue is attached further down than normal because of the jaw being undersized. But I'm willing to bet that any U shaped cleft could've been caused by the tongue being in the way whether the baby has PRS or not. I find it very interesting and I plan on asking loads of questions the next clinic appt. I've heard of babies with a cleft having a small lower jaw but no breathing problems at all. I know a little boy with a cleft palate whose jaw is smaller than Justine's but he wasn't diagnosed with PRS and he did not have breathing problems. So it can go either way I guess. But I guess it's safe to say they need to have the small lower jaw and the downward placed tongue whether or not they have a cleft. And the mild to severe breathing problems.
What a subject, huh.
I'm sorry, but I don't agree with you about the PRS symptoms. I asked at our cleft palate clinic after I talked to someone with a baby that had a small lower jaw and cleft but no downward placed tongue and no breathing problems if she also could have Pierre Robin Syndrome, the mother never heard of it. I was so anxious to find someone that could relate to me. They said no, the symptoms are small lower jaw and downward place tongue along with the cleft and breathing problems, just like Justine's symptoms. Every article I've read about PRS says the symptoms are micrognathia (small lower jaw), glossoptosis (downward diplaced tongue), U shaped cleft (although some did say that there could be a high arch to the palate or not and no cleft) and breathing problems associated with these. The information comes from N.O.R.D. (National Organization for Rare Disorders, Inc.), The Cleft Palate Foundation (located in Pittsburg, PA), articles copied from text books I'd receive from Justine's doctors, some documents my sister in-law in Conneticut received from different organizations including March of Dimes and cleft palate organizations in her area, sites on the Internet that I'm still trying to compile a list of the URLs so others can see. They have all said the same thing. I'm sure if PRS could include just some of the symptoms then there would be a lot more occurrences of it being reported.
An article I read states that PRS was first described in 1822 and is named after the French physician who associated the symptoms with breathing problems in affected infants. So one could believe that that would mean if there is no breathing problem even mild then it really wouldn't be PRS either. The thought of Justine being born in 1822 with PRS makes me ill, although, I guess they managed without Haberman Feeders.
As far as the tongue goes I too heard it could be too small (probably because it's back so far you can't see it) and too large (it would seem so because it obstructs breathing) but most likely is of normal size. Justine's is normal in size though we always thought it was small and like I said because you really couldn't see it. It was way back there when she was an infant. Now she sticks it out and touches her chin the little silly. Up until recent when she would tuck her chin while looking down she would not be able to draw in a breath.
I do plan on having my list of PRS related questions with me when we go for her next visit to the clinic. I would like to find out if her's is positional related or genetics. And what they think her chances are of giving birth to a baby born with PRS. The next visit ought to be quite interesting with me babbling on about Wide Smiles and Cleft-Talk and how I finally can talk to others with babies like mine. We have a few months yet.
BTW, there may be a name for a U shaped cleft whether there is a small lower jaw or not. I'm going to ask about that too just for the info. Of course though maybe it's just called U shaped cleft. ;~) Also, as far as James goes I don't think Lori said he has an undersized lower jaw. He had a U shaped cleft and she said he couldn't breathe right on his back. Maybe because his airway was smaller. I was able to get tubes down Justine's throat. Wasn't always easy though. Thank God that's over with.
"I'm sorry, Joanne, but I don't agree with you about the PRS symptoms. I asked at our cleft palate clinic after I talked to someone with a baby that had a small lower jaw and cleft but no downward placed tongue and no breathing problems if she also could have Pierre Robin Syndrome, the mother never heard of it."
I'm not sure what you disagreed with. I said that PRS is diagnosed by observing a horseshoe-shaped cleft, a small lower jaw and a downward placed tongue. With or without breathing difficulties (I've known several kids with PRS who did not have the breathing problems.) There are exceptions to each of the markers - meaning the palate MAY not be cleft, though it usually is. The jaw may be various degrees of small. The tongue could be too large for the space (that is - normal size, as the jaw is what is small) or too small and/or set way back (due again to the jaw problem). I sort of read my answer as being essentially the same as yours - though yours shows a lot more research. (I've done the research - just didn't quote it here.)
Many kids have undiagnosed conditions, and many others have misdiagnosed conditions. Just because the mom doesn't know does not mean it isn't there. Pierre Robin has many causes, but is identified through observation, and if you observe a horseshoe-shaped cleft, an abnormally small jaw and a down-ward placed tongue, you can put the smart money on the fact that you're looking at Pierre Robin.
Just to answer your question why I didn't agree. Sorry, I should have said. Mainly this part (with or without tongue). And I'll also still stick with that they have to have mild to severe breathing problems because that is what made the fellow by the name of Pierre Robin take notice and associate it with the small jaw and downward displaced tongue with a cleft. In other words the difficulties in breathing that are associated with these sequence of symptoms happened with enough infants and still does to call it a The Pierre Robin Syndrome.
I'm just trying to defend my answer to Lori because I feel confident I gave her correct information. I'm sure there are many disorders that are very similar to Pierre Robin Syndrome but don't include all of the symptoms. There are also a lot more symptoms that can occur with PRS maybe as a result of it such as with the heart. I hope to have some of these questions answered at our next appointment. I want to get more info from them if I can, especially about Justine's chances of having a baby with PRS or even my son Vincent.
There is a site on the Internet that has a lot on Pierre Robin and multiple occurrences in a family I found interesting. As soon as I get my list of URLs together (I have a few written down now) I'll post them. It takes so long to go from site to site I can only do a few at a time. Sorry if it's taking so long, everyone.
"Just to answer your question why I didn't agree. Sorry, I should have said. Mainly this part (with or without tongue). And I'll also still stick with that they have to have mild to severe breathing problems because that is what made the fellow by the name of Pierre Robin take notice and associate it with the small jaw and downward displaced tongue with a cleft. In other words the difficulties in breathing that are associated with these sequence of symptoms happened with enough infants and still does to call it a The Pierre Robin Syndrome."
We are agreeing here, but in increments. Most will have breathing problems, but not all. Sorry, regardless of what any book may tell you, when I look into the face of a child clearly affected by Pierre Robin who is not also struggling to breathe, I have to say "not always". But we are both right, in that breathing difficulties associated with downward placed tongue, small jaw and sometimes and backward and upward displacement of the larynx will be a major part of Pierre Robin.
If it has certain characteristics, it is Pierre Robin. What flavor of Pierre Robin can be further defined (could be one of several syndromes, positional, etc.) It's these shades of grey that make the practice of medicine so tough.
You don't have to defend your earlier response - it was correct. You have obviously done a lot of research, and for good reason. I am thrilled that you are willing and eager to share it here because, as you have noticed, a LOT of our families here are dealing with Pierre Robin. We can NEVER have too much information. And it is when we all share what we learn, as you have, that everyone derives benefit from this forum.
Thanks. I just think we are picking nits - we are both saying the same thing.
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