Well it's been a year and still no diagnosis...

[keeperofthecheerios]

I've posted about Miss Rylee a few times now. Shes been through 4 CT scans, an appointment with a cranial facial surgeon, and a neurologist...and still no answers! She hasn't been diagnosed with cranio but you guys are the only people I have to turn to. Rylee is doing so well developmentally, shes beautiful, and is my little comedian but I can't shake the feeling somethings not right. And I feel horrible like I can't accept her the way she is. But I can't help but notice her extremely flexible joints, wide chest, small stature, and frontal bossing. I dont know why I am posting. I justfeel very confused tonight. We went to a friends tonight and her daughterIs one week older than RyRy and they look so different it kinda scared me. We have a long awaited appointment with the geneticist in September but it seems so far away. If any of you have seen or heard of anything with similar symptoms please let me know : Frontal bossing WITH ridgingMacrocephalylarge chest Small stature (she is only 26 inches at 1 year)Hypermobile jointsGERDHere are some pictures:

[jjmc123]

What have the doctors said so far? I'm sorry you can't answers.

[keeperofthecheerios]

All of them have asaid "lets just wait and see" for the past year. Her last CT was in January at 6 months and they said it wasnt bad enough to be considered cranio and that I should be happy that she doesnt have any delays.

[gijohnnysgal]

I am sorry. Her headshape looks abnormal to me, so I can see your worries. I hope you find answers soon!

[tammylh]

Do you have a copy of the latest CT? We are not doctors here, but many of us have seen a lot of CTs and can usually tell if sutures are open or closed. If you have some 3D images you wouldn't mind sharing, we might be able to give some advice. I do see why you are concerned.

[Monkey'sMommy]

That the doctors said her head shape "wasn't bad enough to be considered cranio" doesn't make sense to me. Either there were sutures that fused too early, ie: cranio, or there weren't and there is something else besides cranio going on. Sorry, I didn't mean that to sound critical of you in any way. I just don't understand how the doctors couldn't tell you if your daughter has cranio, based on a ct scan. Have you sought out a second opinion from another team/hospital?

[gijohnnysgal]

That the doctors said her head shape "wasn't bad enough to be considered cranio" doesn't make sense to me. Either there were sutures that fused too early, ie: cranio, or there weren't and there is something else besides cranio going on. Sorry, I didn't mean that to sound critical of you in any way. I just don't understand how the doctors couldn't tell you if your daughter has cranio, based on a ct scan. Have you sought out a second opinion from another team/hospital?

I agree with this 100%! If the sutures are fused at all, they are fused. Cranio doesn't have varying degrees of fusing. I hope you can get answers!!!

[keeperofthecheerios]

I never met with anyone besides her Peds office when we got results of the CT's, and 3 of the times I got the results over the Phone. When we met with dr. singal (sp?) At children's mercy when she was 6 weeks he said sutures were just ridged but her dad was diagnosed with sagittal cranio so he advised we have follow up CT's to check the sutures. I have never felt like her Ped takes it seriously enough she juat makes me feel like I'm being overly paranoid. I've wanted to get a second opinion but there isnT really any doctors near us that arefamiliar with cranio, I'm in wichita ks. We do go sre a Geneticist in September though.

[keeperofthecheerios]

Sorry I replied from my phone. I didn't realize I had so many errors!

[gijohnnysgal]

Pediatricians, generally, do not diagnose cranio. We were fortunate that ours recognized it and sent us to a CFS immediately. But, you need to see a neurosurgeon or craniofacial surgeon (and a CFS is probably the better of the two). I have not heard good things about Dr. Singhai... Maybe try the University of Missouri Children's Hospital or The University of Kansas (http://www.kc-plasticsurgery.com/dr-...t-andrews.html). You could also email your pictures to Dr. Fearon (cranio700@aol.com).