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pectus excavatum

Allyson

Senior Member
Messages
1,684
Location
Australia, Melbourne
I know my son does not have Marfran syndrome. Both my son and I have a mild case of scoliosis. However, he is 5'5' and does not have long limbs. We come from a long line of short people. There could be something wrong with the lymphatic system or pituitary. It could be something that runs in out family. When my dad started High School he was 4'11''. That's pretty small. But we are also part Native American and where I come from, most of the Native Americans are small.

not sure where you are in the world Mya but this is intersting on missed EDS Dx - also inlcudes upright MRIs to measure postural drop iin blood flow

This young first noticed symptoms fo her congenital condition whne she wasat university.


http://www.thewhig.com/2013/06/07/a-systemic-lack-of-awareness-of-eds


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Allyson

Senior Member
Messages
1,684
Location
Australia, Melbourne
found it Mya


Ehlers-Danlos Syndrome, Kyphoscoliotic Form


Synonyms: EDS, Kyphoscoliotic Form; EDS Type VI; EDS VI; Ehlers-Danlos Syndrome Type VI; Lysyl-Hydroxylase Deficiency. Includes: Ehlers-Danlos Syndrome Type VIA, Nevo Syndrome

Heather N Yeowell, PhD and Beat Steinmann, MD.



 

Initial Posting: February 2, 2000; Last Update: January 24, 2013.

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Summary


Disease characteristics. Ehlers-Danlos syndrome (EDS), kyphoscoliotic form (previously known as EDS VI) is a generalized connective tissue disorder characterized by friable, hyperextensible skin, thin scars, and easy bruising; generalized joint laxity; severe muscular hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility with increased risk of rupture of the globe. Intelligence is normal; life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe.

Diagnosis/testing. EDS, kyphoscoliotic form is caused by deficient activity of the enzyme procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1). The diagnosis of EDS, kyphoscoliotic form relies on the demonstration of a markedly increased ratio of deoxypyridinoline to pyridinoline crosslinks in urine measured by high-performance liquid chromatography (HPLC) (a highly sensitive, specific, and inexpensive test) and/or assay of lysyl hydroxylase enzyme activity in skin fibroblasts. Molecular genetic testing of PLOD1, the only gene in which mutations are known to cause EDS, kyphoscoliotic form, is available.


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ChookityPop

Senior Member
Messages
583
My son had a complete physical recently and was told he has a concave chest (pectus excavatum).
http://en.wikipedia.org/wiki/Pectus_excavatum. I never knew this was a problem or a medical condition. Apparently, if it is severe enough, it can cause Mitral Valve prolapse or completely crush and stop a persons heart.
It seems like many of the symptoms of Pectus Excavatum overlap with Chronic Fatigue Syndrome. However, now that I know this is abnormal, I've looked at the area on his chest up close and it is barely noticeable. This is probably why this is the first we've heard of it (he's 18). He was also told he had a heart murmur. Thus, now I'm thinking he may not have FMS or CFS. This may have been the issue the whole time. It is correctable with surgery. He is going in for an EKG in a few days.

They first diagnosed my uncle with Mitral Valve Prolapse when he turned 40. I wonder if this was the cause and it is a common congenital defect in my family.

I have pectus excavatum. Have you found something that works? Correction of the PE etc?