# cleft lip and palate, micrognathia, causes?



## bcblondie (Jun 9, 2009)

Hi everyone.

I had a miscarriage last month. I was 11 weeks but the baby measured 8.5. They did not do any testing on ourselves or the baby. When I passed Sydney I could tell something was wrong with his face. It looked like there was only a very small bottom jaw (micrognathia) and a bilateral cleft lip and palate. So severe that there really was no nose. the forhead just curved around into the mouth.

I've googled extensively, of course, and the closest I came is Pierre Robin sequence. But even that, some sites say it's only cleft palate and not lip.

Also, there are 3 black dots on the forehead. A big one in the center and a smaller one on each side. I have no idea what the heck that could be.

Does anyone have any experience with this? I'm nervous because I read 22% of the time cleft lip it's a genetic thing. The rest of the time it's usually environmental factors. Either way, that's scary. Either I'm predisposed to it, or I'm lacking in some vitamin or something....

Help!

Oh. And I have pics I can share if that helps anyone diagnose.

Thanks!!


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## 2xy (Nov 30, 2008)

I am finding this difficult to follow.

An 8.5 week fetus does not really look like a baby yet. What you are describing sounds like the normal features of an 8-week fetus.

Also, did you ask your doctor about your concerns?


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## bcblondie (Jun 9, 2009)

Actually an 8.5 week fetus looks rediculously human. Tiny eyes, nose, mouth, ears, arms and legs, and the fingers are just starting to form.

Here is a picture I found online, that looks identical in gestation to the baby I passed

http://www.octopusmom.com/Fetal_Development_Weeks_5-8.html

And here is the link to my album. I'll pm you the password.

http://s170.photobucket.com/albums/u267/bcblondie05/Loss/

The mouth is clearly not formed the way it should.


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## bcblondie (Jun 9, 2009)

Oh and the first link I gave, look at week 8, obviously.


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## theboysmama (Sep 21, 2005)

I am confused as I miscarried in nov. At 8 wks ( the baby was at 8 wks as well based on O not on date of conception). My baby had arm buds but no hands, no mouth or features yet, was still shrimp like and had no legs. Were your dates based from o or lmp? Could you pm me a pic or the password, I would be happy to exchange photos aswell.


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## bcblondie (Jun 9, 2009)

My dates are exact. I did OPKs and took my temps each day. I heard the heartbeat at 7w5d (very early b/c my uterus sits far forward). We heard the heartbeat again at 8w3d, 2 days later I couldn't find it. Had an ultrasound and the baby had died at 8w4d. Everything lines up exactly.

The link to my album is in teh post above yours and I'll pm you the password. I'd love to see your pics as well.


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## Jane (May 15, 2002)

The most common reason for miscarriage is anuploidy - whole chromosomes are absent or repeated. Many off these would have bilateral cleft palate. My best guess is that you and your baby were part of the unlucky 1 in 4 to miscarry, and that it was the most common cause of miscarriage - chromosome issues. Some 80% of miscarriages are thought to be chromosome issues. Most are so severe as to be incompatible with out of the uterus life.

The good news is there is usually no root cause, just the usual improper splitting of genes in egg or sperm.

I would recommend taking folic acid from pre-conception - 800-1200 mg in suppliments, if you aren't already. If you wanted to be super careful, you could even get MTHF suppliments from Thorne for maximum punch. But that seems overly cautious. SUBMIT

I am sorry.


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## Jane (May 15, 2002)

One example: Trisomy 18

http://en.wikipedia.org/wiki/Edwards_syndrome

Quote:


> Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput); low-set, malformed ears; abnormally small jaw (micrognathia); cleft lip/cleft palate; upturned nose; narrow eyelid folds (palpebral fissures); widely spaced eyes (ocular hypertelorism); drooping of the upper eyelids (ptosis); a short breast bone; clenched hands; choroid plexus cysts; underdeveloped thumbs and or nails absent radius, webbing of the second and third toes; clubfoot or _Rocker bottom feet_; and in males, undescended testicles.[10][11]


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## KristaDJ (May 30, 2009)

I think, like Jane said, it was just a random chromosome issue which is extremely common. I also think the small lower jaw is probably not out of the range of normal. As for the black dots..... no idea ?


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## theboysmama (Sep 21, 2005)

Thanks for the link. Those are great pics. I will send u mine later when at a reg computer. I see what you mean about the mouth and spots. I would see if your dr or someone would be willing to look at the pics.


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## bcblondie (Jun 9, 2009)

Quote:


> Originally Posted by *Jane*
> 
> The most common reason for miscarriage is anuploidy - whole chromosomes are absent or repeated. Many off these would have bilateral cleft palate. My best guess is that you and your baby were part of the unlucky 1 in 4 to miscarry, and that it was the most common cause of miscarriage - chromosome issues. Some 80% of miscarriages are thought to be chromosome issues. Most are so severe as to be incompatible with out of the uterus life.
> 
> ...


I should have mentioned, this was my second miscarriage. I had one at 5 weeks. But I also have a healthy son, so who knows.

I was taking a prenatal plus extra folic acid on the side. But I was getting really bad headaches so I stopped about a week before the baby passed... makes me fear that I caused it myself by stopped the folic acid... 

Very good to know about the anuploidy. I know it was most likely just our bad luck. It happens.  But I still can't help but research causes lol.

Quote:


> Originally Posted by *Jane*
> 
> One example: Trisomy 18
> 
> ...


Yes I've considered this. I kind of passed it off since teh head seemed normal size, and the hands weren't clenched. But then again, I'm sure babies with it don't always have every symptom. So it really could be Edwards.

Quote:


> Originally Posted by *KristaDJ*
> 
> I think, like Jane said, it was just a random chromosome issue which is extremely common. I also think the small lower jaw is probably not out of the range of normal. As for the black dots..... no idea ?


I think you are right about the jaw. Which I guess makes it that much harder to diagnose because it could be a million different things without the micrognathia. Or it could just be a simple cleft, and no real underlying condition. Who knows.

The black dots really stump me. I thoerize that maybe they are present in the very early days, and turns into something else... but that failed to develope... I really don't know.

There's actually one more black dot on the very top of the head. So weird.

Quote:


> Originally Posted by *theboysmama*
> 
> Thanks for the link. Those are great pics. I will send u mine later when at a reg computer. I see what you mean about the mouth and spots. I would see if your dr or someone would be willing to look at the pics.


 THey are pretty facinating aren't they? Looking forward to seeing your pics.

I sent them to my midwife and she was like "hmm, yes, I see what you mean" but of course had no idea what the cause was or anything. I dunno who else to call. I dunno where to start.


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## Jane (May 15, 2002)

The time for folate to affect the cleft development had passed before you stopped your vitamins. That is not the cause, I know for sure.

Is your pregnancy history: three pregnancies, one healthy baby, two miscarriages, one at 5 weeks, one at 8 weeks?

The most likely cause is simply bad luck, even with two miscarriages in a row. Supporting that is that the miscarriages were different gestational ages, and you have a healthy child. But, there are doctors that will do preliminary investigations after two miscarriages. Some wait until 3 miscarriages.


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## bcblondie (Jun 9, 2009)

Quote:


> Originally Posted by *Jane*
> 
> The time for folate to affect the cleft development had passed before you stopped your vitamins. That is not the cause, I know for sure.
> 
> ...


Yes this is correct. Except my 5 week one was before my healthy pregnancy. And here they won't do testing until I have 3 in a row. (Canada) So there's no way I'll know for sure unless I have 2 more in a row  So not fair.

But I agree that it's probably just my horrible bad luck. M/c is so common, some of us unfortunate ones have several.

That is reasuring that the folate wasn't the problem. THank you.


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## Vespertina (Sep 30, 2006)

Hmm. Interesting. Would you mind sending me the password to your album, OP?


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## bcblondie (Jun 9, 2009)

Absolutely! And anyone who'd like to see. I'm happy to share. It's really fascinating.

And sorry I didn't see this earlier. I don't know why I'm not getting email notifications for some threads.


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## Vespertina (Sep 30, 2006)

Quote:


> Originally Posted by *bcblondie*
> 
> Absolutely! And anyone who'd like to see. I'm happy to share. It's really fascinating.
> 
> And sorry I didn't see this earlier. I don't know why I'm not getting email notifications for some threads.


First, I'm so very sorry for your loss.







I do see what you're saying. These pictures are just fascinating. Thank you for letting us see them.


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## RoamingWidgeteer (Jan 7, 2010)

So sorry for your miscarriage  Just remember that they are common because so many things can go wrong developmentally, and really aren't anyone's fault.

There was an study not too long ago about how women who get pregnant easily also have more miscarriages, probably because the uterus is more receptive to any embryo even when it's outside the optimal implantation window (and possibly damaged). Don't know if that helps at all ...


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## 2happymamas (May 11, 2005)

I am so sorry for your loss. Is there any chance that you could have hypothyroidism? Untreated underactive thyroid issues can often lead to miscarriage. In addition, hypothyroidism can lead to birth defects and the most common birth defects associated with underactive thyroid function are cleft lip, cleft palate, and club foot.


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## bcblondie (Jun 9, 2009)

Quote:


> Originally Posted by *Vespertina*
> 
> Quote:
> 
> ...


No problem.  And thank you.

Quote:


> Originally Posted by *RoamingWidgeteer*
> 
> So sorry for your miscarriage  Just remember that they are common because so many things can go wrong developmentally, and really aren't anyone's fault.
> 
> There was an study not too long ago about how women who get pregnant easily also have more miscarriages, probably because the uterus is more receptive to any embryo even when it's outside the optimal implantation window (and possibly damaged). Don't know if that helps at all ...


Thank you.

I've heard that, actually. It makes sense. 

I don't get pregnant all that easily. My first pregnancy only took 3 months to conceive so it's possibly for that situation/miscarriage. After that I stopped ovulating and needed clomid and finally after a year I conceived my son. Then at a year postpartum we started TTC again but it took 10 months to conceive.  Which I know isn't horrible but I needed clomid again.

Quote:


> Originally Posted by *2happymamas*
> 
> I am so sorry for your loss. Is there any chance that you could have hypothyroidism? Untreated underactive thyroid issues can often lead to miscarriage. In addition, hypothyroidism can lead to birth defects and the most common birth defects associated with underactive thyroid function are cleft lip, cleft palate, and club foot.


Thank you.

It's possible that I could. I don't have most of the classic signs but I do have really low temperatures which I heard could be a sign, correct? And my mom had something removed from her thyroid... I lump I think. But it was benign.


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## Megan73 (May 16, 2007)

Quote:


> Originally Posted by *Jane*
> 
> The most likely cause is simply bad luck, even with two miscarriages in a row.


I totally agree. It's really normal to look for a reason and blame ourselves but given how common miscarriage really is, it's just not that unlikely for a woman to have had two, or even three early losses.

Also, I know from experience that what looks abnormal to a lay person may be normal to a pathologist's trained eye or be part of the decomposition process.

I'm so sorry for your losses, mama.


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## bcblondie (Jun 9, 2009)

Quote:


> Originally Posted by *Megan73*
> 
> Quote:
> 
> ...


Thank you. Logically I know this. But I guess it's just natural to worry.


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## tanyalynn (Jun 5, 2005)

I can't comment on much of this, but I did want to comment that you may want to switch to a prenatal with actual folate instead of folic acid. Some people don't turn folic acid into folate very well--that may not be an issue for you at all, or maybe it is, but the folate form isn't bad for anyone. Thorne makes prenatals--all of the Thorne supps have actual folate--and they're available many places online and are not particularly expensive. New Chapter prenatals also have folate, though the dosage is lower--though with either, you could simply modify the number of tablets you take to fit the amount you want to take.

I'm sorry for your loss. It would be hard not to know the cause.


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## bcblondie (Jun 9, 2009)

Oh. Just to add to my previous post. I don't think it was decomposition. Everything looked perfectly preserved. I've had friends who had losses where some parts did start breaking down and it didn't look like this. Also it seems weird that it would break down in such a way that it resembles cleft lip. lol. Seems more likely that it was a defect. But I guess we'll never know.

In a way it comforts me that there was a defect, and not my body senselessly killing a healthy baby, kwim? I'd rather believe there was a birth defect, and the next baby could/will be perfectly fine. 

Thank you Tanya. That does make sense. I'll look into that. I've been taking Materna.


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## Smokering (Sep 5, 2007)

I'm so sorry. 

Folic acid deficiency is what can cause neural tube defects - but it doesn't happen very often, even in women who don't take supplements. I can't see that *not* supplementing for a week would dip your levels down to "deficient" after previous supplementation! Don't blame yourself for this, OK? I think most women get a bit spotty at taking supplements consistently in the first trimester - I certainly did, some of my tablets made me nauseated! - and it usually works out fine. I think this was just one of those things, and nothing you could have prevented.


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## bcblondie (Jun 9, 2009)

Thank you hun.


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## Toolip (Mar 7, 2008)

would you be willing to pm me the password?


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## baileyandmikey (Jan 4, 2005)

So sorry for your loss. There could be many many reasons for the babies apperance. Have you shown these pictures to an ob? Maybe they could give you a little more info than the midwife?


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## bcblondie (Jun 9, 2009)

Quote:


> Originally Posted by *baileyandmikey*
> 
> So sorry for your loss. There could be many many reasons for the babies apperance. Have you shown these pictures to an ob? Maybe they could give you a little more info than the midwife?


No I haven't. I don't have an OB at the moment but I will call my former one and see if she'd be willing to take a look. Thank you.


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## chrstene (Dec 11, 2007)

I really have no insight to offer, other than random chromosomal issues, but would like to see the pictures if still ok. I am so sorry for your loss and wish none of us had to go through this.


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## bcblondie (Jun 9, 2009)

Thank you. Yup I'll pm you the password.


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## bri276 (Mar 24, 2005)

I have a chromosomal disorder and have had a child with a cleft palate and many miscarriages, including one where I saw the 10 week fetus. My understanding is that the palate does not close until 8 weeks - from wiki:

Quote:


> The elevation of the palatal shelves from a vertical position to a horizontal one occurs during week 8 of embryological development.


 I'm sorry for your loss. I don't know that it's possible to dx a craniofacial abnormality accurately on an 8 wk fetus. The fetus could have passed some time before (in fact, that's most likey as it usually takes time for your hormone levels to drop before you miscarry).


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## bcblondie (Jun 9, 2009)

Quote:


> Originally Posted by *bri276*
> 
> I have a chromosomal disorder and have had a child with a cleft palate and many miscarriages, including one where I saw the 10 week fetus. My understanding is that the palate does not close until 8 weeks - from wiki:
> 
> ...


I'm sorry for your losses as well. But my baby didn't pass away til 8 weeks 4 days. It took til I was 11weeks to miscarry. By comparison to pictures I see online and from other people's losses, their baby's palates were closed already. I guess it's possible some baby's close later than others but. I feel that it should have been done by then.


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## BeantownBaby9 (Jan 15, 2009)

I have had 2 mc's and 1 little boy in between. DS was born with tongue tie and a minor sacral dimple. Consequent genetic testing shows me with MTHFR homozygous and DS hetero....I didn't take the right form of folate while pregnant and that was the result. I am now on methylfolate and it should correct any TT issues, but yet I still had another MC after getting preggo on the first try in October. Folate and palate issues are connected, maybe your doc would get you tested for that?


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## bcblondie (Jun 9, 2009)

Worth a shot to ask him. What brand of vitamin has the actual folate in it?


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## SoCaliMommy (Jun 11, 2004)

I really have no insight to offer, other than random chromosomal issues, but would like to see the pictures if still ok. I am so sorry for your loss and wish none of us had to go through this.


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## bcblondie (Jun 9, 2009)

Yup. Pm'ed you.


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## BeantownBaby9 (Jan 15, 2009)

I am on methylfolate. I have an RX for it under the name Deplin, as its marketed to depressed people with MTHFR abnormalities and I tend towards the depressed side especially in winter. You can also get Thorne B vitamins with methylfolate in them.


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## bcblondie (Jun 9, 2009)

Quote:


> Originally Posted by *BeantownBaby9*
> 
> I am on methylfolate. I have an RX for it under the name Deplin, as its marketed to depressed people with MTHFR abnormalities and I tend towards the depressed side especially in winter. You can also get Thorne B vitamins with methylfolate in them.


 See that's funny becuase I was just talking my old due date club from DS that I feel depressed lately... and that it seems like it has a lot to do with the winter season... trapped at home cuz it's minus 40 out.


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## BeantownBaby9 (Jan 15, 2009)

I have SAD really bad. After noticing it for years, I finally have a lightbox I made DH get me. Placebo effect or not, 2500iu of Vit D, methylfolate, the light box and yoga 2-3x a week is really really helping.


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