spinecor

[Pooka1]

You're welcome.

Yeah now that I have attuned to these characteristics, I see other people who have this body type who I'm guessing can't all have Marfan's. Even I have some of these as I mentioned and my husband is tall (~ 6' 3") and was thin (though he is in shape again now). The ped remembered asking me after seeing the girls if my husband was tall. I guess that is part of the reason she doesn't think the girls have Marfan's.

[emarismom]

Good luck at your appointment Thursday Sharon. I'll keep you and your daughter's in my prayers.

It's true that once you become aware of the characteristics of a condition, you begin to see it everywhere. I see people with scoliosis everywhere now. Before Emily was diagnosed, I had never noticed it at all.

[Pooka1]

Emily's mom, thanks for that.

[Carly's Mom]

My daughter has MASS, it is similar to Marfan.

MASS syndrome: A genetic syndrome that is similar the Marfan syndrome but does not involve lens dislocation. It is a connective tissue disorder that involves the skeleton, skin, aorta and mitral valve. More detailed information about the symptoms, causes, and treatments of MASS syndrome is available below.

http://www.wrongdiagnosis.com/m/mass_syndrome/intro.htm

She wears the SpineCor brace and gets correction. She is treated by Brian and Brad Ouellette.

We do many other things for her to help with her MASS syndrome.

[Pooka1]

Carly's Mom,

Than you for posting that.

Well it seems there is no shortage of this type of syndrome. There seems to be a spectrum which may or may not be just different manifestations the same genetic issues.

Of the list of symptoms besides the heart stuff which I will know tomorrow if they have, they have the long limbs. One of my daughters has a long oval face as I do. Her identical twin, not so much if you can believe it. (They are definitely identical because there was only one chronionic sac.) Genetics is very squirrely if you ask me.

Of Marfan's and MASS, it seems MASS is less severe in terms of heart problems.

I'll definitely mention MASS also when we got to the geneticist although I suspect she will bring it up anyway.

My MIL's family have may members who are tall and thin with longish arms. My husband has one cousin on that side who has scoliosis. None have heart issues of this type to my knowledge.

Thanks again.

[MJB]

hmmm interesting.... Halle has a lot of these...

- scoliosis - obviously
- tall/thin - yes
- pronated ankles - yes
- flat feet - yes
- arm span exceeding height - not sure but curious now
- arched palate - don't think so
- mild/moderate pectus excavatum as toddlers - not that i noticed
- long/slender fingers - yes
- blue sclera as infants - yes

[Pooka1]

MJB, I just listed the ones my daughters had. The full list and specific diagnostic criteria are here:

http://www.marfan.org/nmf/GetSubCont...menu_item_id=3

Index case:
Major criteria in 2 different organ systems
AND involvement of a third organ system.

Relative of index case:
1 major criterion in family history
AND 1 major criterion in an organ system
AND involvement in second organ system.

SKELETAL

Major (Presence of at least 4 of the following manifestations)

__ pectus carinatum
__ pectus excavatum requiring surgery
__ reduced upper to lower segment ratio (Note 1)
OR arm span to height ratio >1.05
Height ____ Arm span ____ Upper segment ____ Lower segment ____
__ wrist (Note 2) and thumb (Note 3) signs
__ scoliosis of >20° or spondylolisthesis
__ reduced extension at the elbows (<170°)
__ medial displacement of the medial malleolus causing pes planus
__ protrusio acetabulae of any degree (ascertained on radiographs)

Minor

__ pectus excavatum of moderate severity
__ joint hypermobility
__ high arched palate with crowding of teeth
__ facial appearance
__ dolichocephaly,
__ malar hypoplasia,
__ enophthalmos,
__ retrognathia,
__ down-slanting palpebral fissures

__ INVOLVEMENT: 2 major criteria or 1 major and 2 minor

OCULAR

Major
__ ectopia lentis

Minor
__ flat cornea
__ increased axial length of the globe
__ hypoplastic iris OR hypoplastic ciliary muscle causing decreased miosis

__ INVOLVEMENT: 2 minor criteria

CARDIOVASCULAR

Major
__ dilatation of the ascending aorta with or without aortic regurgitation
and involving at least the sinuses of Valsalva
__ dissection of the ascending aorta

Minor
__ mitral valve prolapse with or without mitral valve regurgitation
__ dilatation of the main pulmonary artery, in the absence of valvular or
peripheral pulmonic stenosis below the age of 40 years
__ calcification of the mitral annulus below the age of 40 years
__ dilatation or dissection of the descending thoracic or abdominal aorta
below age of 50 years

__ INVOLVEMENT: 1 minor criterion

PULMONARY

Minor (only)
__ spontaneous pneumothorax
__ apical blebs

__ INVOLVEMENT: 1 minor criterion

SKIN AND INTEGUMENT

Minor (only)
__ striae atrophicae
__ recurrent or incisional hernia

__ INVOLVEMENT: 1 minor criterion

DURA

Major
__ lumbosacral dural ectasia by CT or MRI

FAMILY/GENETIC HISTORY

Major
__ first degree relative who independantly meets the diagnostic criterian.
NAME _______________________
__ presence of mutation in FBN1 known to cause Marfan syndrome
__ presence of haplotype around FBN1 inherited by descent and unequivocally
associated with diagnosed Marfan syndrome in the family


Differential Diagnosis:
Homocystinuria - obtain plasma amino acids
Congenital Contractural Arachnodactyly (MIM 121050)
Familial Thoracic Aortic Aneurysm (MIM 132900)
Familial Aortic Dissection (MIM 132900)
Familial Ectopia Lentis (MIM 129600)
Familial Marfan-Like Habitus (MIM 154705)
MASS - myopia, mitral valve prolapse, mild aortic dilatation, skin and skeletal (at least 2, preferable 3 criteria)
Familial mitral valve prolapse syndrome
Stickler syndrome (MIM 108300) - myopia, vitreoretinal degeneration, retinal detachment, deafness arthropathy, spondyloepiphyseal dysplasia, joint hypermobility, midface hypoplasia, micrognathia, U-shaped cleft palate, mitral valve prolapse
Shprintzen-Goldberg syndrome (MIM 182212) - Marfan type skeletal involvement AND craniosynostosis AND development delay

[Pooka1]

That's a long post.

The most potentially serious issue with Marfan's is the heart issues. And the most common problem within that category is aortic dissection as I understand it.

As I understand it, aortic dissections can be avoided with surgery to correct them before they occur.

Aortic dissections can be surgically treated once they occur but it is much dicier so the point is to watch the aorta if you have or are suspected to have Marfan's as I understand it.

[MJB]

Thanks for the info! Judging by the full description I don't think that she has that.

[Pooka1]

Ped. cardiologist assessment of my girls

Well I don't like adding to this monster thread but this is where I mentioned this topic so I'll post it here.

Their hearts, heart functions, aorta, mitral valve, pulmonary arteries, etc. etc. etc. are completely normal. He does not recommend that they need to repeat the measurements unless the geneticist, who we will see in mid August, suggests it to r/o emergent Marfan's or other of a number of connective tissue disorders.

I was impressed that the guy did an exam for Marfan's characteristics which I didn't think cardiologists necessarily do. I guess he does lots of cases ruling Marfan's in or out and knows what to look for in these kids.

Since they have no involvement with any other system (heart, skin, eye) to date and only have some of the skeletal characteristics of Marfan's, I do not believe they will ever get a diagnosis unless something changes. I also think MASS is ruled out unless something changes but there are other connective tissue disorders, a spectrum, that might never be ruled out as I understand it. It's a murky situation with this constellation of signs and symptoms. But I guess I don't care if they have something else as long as the heart issues are ruled out as appears to be the case.

I asked our pediatrician for the cardiologist and geneticist referrals... she didn't suggest it because, as I mentioned, she doesn't think they have Marfan's. But the cardiologist did say that he had parents coming in with kids who had less skeletal indicators for Marfan's than my girls. That made me feel better, like I wasn't crazy or generating my own medical advice!

So it's a good day for my girls and a load off my husband and me.

[MJB]

I contacted Dr. Rivard and Dr. Coillard about Halle's pronated ankles, about whether she should get inserts for her shoes or not and this is the response I got... I had no idea! So I guess she can't get inserts until she's older? I don't know what to do because she really should have that taken care of or she may have problems with her ankles as she gets older...

"Except if your daughter have important feet pain you must not treat her feet because you have a very high risk to increase the scoliotic curve with any insert but the decision is yours.

Best Regards

Dr Coillard and Dr Rivard"

[Pooka1]

My daughters got inserts to correct the flat feet which I'm told can actually be corrected if caught early.

The inserts were not for the pronated ankles to my knowledge.

Also, I'd like to see the evidence for his statement that inserts can worsen scoliosis. It sounds like something a chiro as opposed to a medical doctor might utter.

[emarismom]

Sharon,

That is wonderful news that your doctor's appointment went well!! Celebrations are in order tonight

[mariaf]

Yes, Sharon - that is awesome news!

I was out all afternoon and came on here specifically to see how it went for your girls today.

I'm glad my gut instincts were right and that all is well!!!!!

[Pooka1]

Thanks Emarismom,

My husband is on business travel (China, Taiwan) but I immediately got an email off to him. He's going to be relieved.

It's a load off.