View Full Version : New coronal cranio diagnosis with likely syndrome
11-25-2011, 05:08 PM
Hi. My daughter Jamie was diagnosed at birth (a week and a half ago) with bilateral coronal craniosyntosis. they think it's likely that it is a genetic syndrome, but the geneticist said one in particular did not jump out at her from the physical inspection. We are going for genetic testing Dec 6th. I have included some pics to see what you guys think, though I don't expect a diagnosis from them.
she does have a furrow above her nose and is missing some bone around the eyes per the plastics surgeon. We are going to Children's in Boston for a consult in December as well with the neurosurgeon.
I wanted to say that this site has definately calmed me a bit, as I was very surprised by Jamie having this issue and very fearful of what might lie ahead, especially after searching the internet-bad, bad idea. I am glad this board is here for support and information.
Here are some pics of my girl: 199911999019992
11-25-2011, 09:03 PM
Welcome to CK. Glad you found this site but sorry you have to go through this. Jamie will do fantastic, though. The geneticist may have more ideas about which syndrome could have caused Jamie's cranio. They will probably do a blood test. Your little girl is adorable :)
11-25-2011, 10:17 PM
http://en.wikipedia.org/wiki/Craniosynostosis Some info on the fg syndromes if you haven't read yet. :pray
11-26-2011, 06:11 AM
Hello and :welcome to the site, so glad you have found us, your little girl is absolutely beautiful :heartbeat Zara was unicoronal but I see similaraties between our girls! Your little one will do great, there are fab results from surgery with bicoronal, I'm sorry they think she may have a syndrome, I'm not too famijliar with them, but I know Zara was tested for a FGFR gene which thankfully came back negative, it was a simple blood test during srugery so Zara didn't know a thing about it xx
11-26-2011, 06:57 AM
11-26-2011, 08:14 PM
Welcome to cranio kids:) It is hard to tell from photos what syndrome it is when they are little babies, as they get older it is sometimes more easy to tell if it is a more common syndrome. My daughter has CFND and had left coronal craniosynostosis. One way to tell if it is CFND is if there are vertical splits in the nails and wide set eyes and wide nose. Although, the syndromes can have such a variety of severity of the features, it is often hard to tell without the blood test. Try not to worry to much though. Even with a syndrome you will find that kids can overcome the challenges that go with. There is also a ton of support out there for parents. My daughter is a completely normal little girl, throwing tantrums, running around, having her high pitched girly scream:) While it is something will give her a few extra challenges, it is just a small part of who she is.
11-26-2011, 11:04 PM
Thanks for the info and replies. It is nice to hear that others are doing well and getting on with life. It is hard not knowing what to expect.
11-27-2011, 01:53 AM
Welcome to CK! :hugg We are all here for you!
11-27-2011, 10:10 AM
Welcome! I'm a bicoronal mom, too! Everyone has been so supportive on here!
11-27-2011, 05:07 PM
Hello from another bicoronal momma!
We don't know what syndrome is in our family, but we know there is one because of the prevalence of cranio plus other oddities (for a lack of a better description). We started the blood testing and ruled out Saethre-Chotzen because we did not have a TWIST mutation. The next check will be on the FGFR3 for Crouzon's.
Good luck with your testing! I hope that you get some solid answers.
11-28-2011, 05:45 PM
Congratulations on your little girl! She is really cute!
It is really not possible to tell by looking what syndrome a child might have. I have a friend with a daughter born with bicoronal cranio and she has Muenke Syndrome. Genetic testing is the best way to know. In the meantime, try not to worry (easier said than done). Your little girl will do really well!
11-29-2011, 02:28 PM
Hello, just chimed in to tell you my son was bicoronal too, altough he has a syndrome it does not affect his life at all (walks, talks, goes to school).
He´s perfectly fine and so will your daughter! :hugg
12-02-2011, 10:06 AM
Welcome and congrats on your daughter! I'm a bi-coronal mama as well and the photos of your daughter actually looked remarkably similar to my daughter when she was born. We had genetic testing done and so far she does not have any syndromes. We're scheduled for endo surgery at Boston Children's next week. If you have any questions or need to talk let me know! CK is an AMAZING resource. Everyone is here for you!
12-06-2011, 06:48 PM
Well, we met with the geneticist today and she did all kinds of measurements/exams. We didn't get the blood test yet b/c we need to get insurance approval-apparently it is expensive. The geneticist said she didn't have many findings, just slightly wide spaced eyes, and of course the bicoronal. She thinks it may be Muenke Syndrome or isolated cranio. I guess we'll see what the testing shows when we get it done.
12-07-2011, 01:45 AM
It is expensive. If your insurance balks, there is another option I can think of. Let me know if you need to talk about it. Muenke Syndrome is interesting because many if not most of the kids do really well with it, while some certainly do have more challenges. If that is the case, many here have done the ongoing study at the NIH for Muenke Syndrome.
01-09-2012, 12:03 AM
She looks very similar to how my Kendall (Muenke Syndrome) looked when she was a baby. If indeed she does have it, let me just tell you about my lovely 9 year old who just made the honor roll again. :)
01-09-2012, 12:31 AM
Hi! I'm a bicoronal mama too. Q was tested twice for genentic issues and they found nothing...for now. Perhaps in the future they will. Regardless, little Q is developing quite typically. Hoping your cranio journey goes as smoothly as possible!
01-09-2012, 07:10 PM
I just wanted to say hi too from another bicoronal mom!!
03-08-2012, 10:38 PM
Just a quick update: We got back the genetic testing results and they didn't find anything. They ruled out all the FGFR syndromes and Saethre-Chotzen TWIST mutation. They said they couldn't explain the cranio with the current technology. We got all this info from a letter, but we will still follow up with the geneticist. She said at this point Jamie would have only a 5% chance of passing this on to her children. No idea how they figure that out, though.
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