crouzons?

[jennifer kichar]

Hi I was just wondering if anyone had any info on crouzons syndrome? I just received Jeremys PS clinical notes and he list possible mild crouzons in there.He also list Saethre chotzen as a possibility but as far as I can tell he has no hand or feet abnormalities.He also list that Jeremy has low set ears, a prominent lower jaw and mid facial hypoplasia(flat face) All of which he lists as mild.We have a genetic appt on the 30th but I cant stop thinking about it.I wish I could see what someone with mild crouzons looks like but I havent found anything yet.I was hoping someone on here could help.I feel so sad and lost.I know that there are worse things but Im sad nonetheless.

[Jenny]

hi jen, this webpage should help you..
http://www.geneclinics.org/profiles/craniosynostosis/details.html

[Jacksmum3]

Hey hun, I know a few children with very mild crouzons to very severe and looking at your son I would not say he had the characturistics, is his eyes covered by eye sockets? This is the most useful for telling if they have crouzons, they have bulging, rugby ball shaped eyes.
Hopefully it's not what they think.
xx

[Jacksmum3]

Here is a picture link of a child with mild crouzons, see the eyes!
http://www.tidsskriftet.no/lts-img/2004/L04-09-Med-05-03.jpg

[three.little.boys]

Jenn...I don't think Jeremy has the same eyes at all that the little boy in the pic Annmarie listed at all....what do you think?

[Jenny]

no, not even close.. the boy does look alot like kayla's eyes though..

[Jenny]

here's a pic of kayla pre surgery..
http://i80.photobucket.com/albums/j191/garnerjenr/Kayla2.jpg

[Springy]

Ok. So, I say we all get together take a bus trip to the best hospital in the US or Canada! We tell them to find out what is wrong with our kids!

I need to lay off the caffeine!:pepsi

[Jenny]

yeah, i think so!! Not here in mi though, you wont get anywhere!

[Jacksmum3]

Hi Jenny, Jack also had the eyes, but these are also typical of Bicoronal because of the lack of forehead growth, when the forehead can't grow neither can the eye brows.
I wish I could get you to see my Genetasist, he would have no probs diagnosing you and your little girl. He is a proffessor of Genetics. And the other bonus of having the NHS is nothing is a cost to you.
Jack has been tested for them all and the proffessor is kind of convinced there is something and is looking into other issues we have as a family, like broad thumbs.
xx

[Jenny]

well we have broad thumbs and big toes, also the small and lowset ears.. kayla had no bridge to her nose, but i think that was a cranio thing.. also vision and ear canal problem.

[Satori]

Hi Jenny, Jack also had the eyes, but these are also typical of Bicoronal because of the lack of forehead growth, when the forehead can't grow neither can the eye brows.
I wish I could get you to see my Genetasist, he would have no probs diagnosing you and your little girl. He is a proffessor of Genetics. And the other bonus of having the NHS is nothing is a cost to you.
Jack has been tested for them all and the proffessor is kind of convinced there is something and is looking into other issues we have as a family, like broad thumbs.
xx

For some reason I was thinking Jack had SCS. If he tested negative on TWIST and FISH there running research studies at Greenwood Genetics in the US on MSX2, there finding a lot of kids with SCS dx's are testing negative on TWIST are coming back positive for a mutation or deletion on MSX2.

[Christina's_Mommy]

Christina had the bulging eyes to some degree and she came back with Muenke Syndrome with the twist in the FGFR 3 R. 250 gene. I think that is right anyway. She also has the low placed thumbs, wide set eyes and low set ears.

[jennifer kichar]

Thanks guys. Jeremys eyes definately don't look like that mild crouzons pic but my hubbys 1st cousin has an unidentified cfs and she looks alot like that.Is it possible to have it and not have the "eyes"? Everyone in my hubbys family is either metopic(5) or saggital(2) and those are only the known cases.They have very high palates,large bottom jaws,misaligned crooked teeth,strabimus,learning disabilities,unnatural curves in their backs,some have hearing loss,and my hubby was made fun of growing up because he had large bulges on the sides of his head and kids called him "lobes" he also has a crooked or deviated septum and his ears are asymetric and one earlobe is attached and one detached.He had very prominent bi coronal ridging as a child that I wonder about.I was at my mil's yesterday(dropping off the baby for some much needed rest) and my bil showed up and asked me to feel his head he said he has been having severe headaches for years and was worried about a bump on his skull.We'll sure enough he has a large ridge over his saggital suture and a large bulge in the back of his head.WTF.Doesnt anybody go to the doctors in his family!?Sorry Im venting,those of you who know a little bit about my hubbys family will know what Im talking about.They just don't believe in modern medicine and choose to not treat their cranio kids.
Anyways, any syndromes fit that description that anyone knows of? Most syndromes dont even include the metopic and saggital, do they?

[Missrosy]

[quote=Anyways, any syndromes fit that description that anyone knows of? Most syndromes dont even include the metopic and saggital, do they?[/quote]

Crouzon does. My daughter was recently fully fused and needed CVR surgery to alleviate high pressure.

Genetic testing is definately the way forward for your family so you know how to treat properly if nothing else. I cannot believe your BIL. How dangerous to just leave thing's. On the other hand some people I know are extremely scared of knowing anything so everyone handles it in different ways.
Good luck,
Iraina & Molly
xxx

[mattricia]

They looked for Saethre Chozen (sp?) when they did Jack's genetic test, but it was negative. He's sagittal.