Pectus Carinatum.... anyone have experience?

[MJB]

So my DD had an appointment on Friday for a brace adjustment. I wanted her to be seen because her chest appeared to be bulging up the middle of her chest. I thought it was the brace causing it, because it is getting too small. Well it turns out that it wasn't from the brace, she apparently has Pectus Carinatum... which I more common in males actually...

I am really hoping that it doesnt get worse, does anyone have experience with this?

[Pooka1]

So my DD had an appointment on Friday for a brace adjustment. I wanted her to be seen because her chest appeared to be bulging up the middle of her chest. I thought it was the brace causing it, because it is getting too small. Well it turns out that it wasn't from the brace, she apparently has Pectus Carinatum... which I more common in males actually...

I am really hoping that it doesnt get worse, does anyone have experience with this?

My kids both had pectus excavatum, a sinking in of the chest, but both conditions can be associated with certain connective tissue disorders when present with surgical scoliosis. Does she have any other issues? Eye problems or unexplained stretch marks or easy scarring? If so, you might want to get an evaluation to rule out connective tissue disorders. For example, my kids are being monitored for Marfans syndrome.

[MJB]

I have read up on Marfans syndrome and she doesn't seem to have any of the symptoms, other than long slim legs, long slim arms, long fingers, flat feet, obviously scoliosis and now this pectus carinatum. Other than the PC, everything else is hereditery...

[Pooka1]

I have read up on Marfans syndrome and she doesn't seem to have any of the symptoms, other than long slim legs, long slim arms, long fingers, flat feet, obviously scoliosis and now this pectus carinatum. Other than the PC, everything else is hereditary...

You might want to discuss this with a medical geneticist. It could be connected to the other symptoms despite nobody else in the family having that particular symptom.

And going a step further, Marfans itself is a spontaneous mutation 25% of the time. So 25% of Marfans patients have no other family member with it. If my kids have it, they will be in this 25%.

Good luck.

[mariaf]

Hi Sharon,

While I am not recommending against seeing a geneticist, I understood MJB to be saying that the long arms, fingers, etc. were hereditary - and I agree that I would be less concerned about these features if everyone in the family had them.

For example, I know a kid in David's class where the mom, dad, 3 sons and 1 daughter are all extremely lanky - very thin and each kid is probably the tallest in their respective class. Now if everybody else in the family was of average build and just one kid was built like this, I think that would be much more cause for concern, but in this case I guess it just runs in the family.

[Pooka1]

Hi Sharon,

While I am not recommending against seeing a geneticist, I understood MJB to be saying that the long arms, fingers, etc. were hereditary - and I agree that I would be less concerned about these features if everyone in the family had them.

For example, I know a kid in David's class where the mom, dad, 3 sons and 1 daughter are all extremely lanky - very thin and each kid is probably the tallest in their respective class. Now if everybody else in the family was of average build and just one kid was built like this, I think that would be much more cause for concern, but in this case I guess it just runs in the family.

I'm suggesting everyone in the family might have the same connective tissue issue but nobody else developed the P.C. That is possible. Not everyone who has Marfans develops all the symptoms for example though they develop the minimum number and type of symptoms to be diagnosed. Some don't have scoliosis and only the heart problems and vice versa.

There is also emergent Marfans and there may be emergent forms of other connective tissue disorders. You may only show the necessary constellation of symptoms after 40 year old for example and then get the diagnosis though you had the condition the entire time.

My husband's family is all tall and lanky with long fingers, etc.. No known Marfans so if my kids have it I think it would have to be a spontaneous mutation but I would be hard pressed to prove it.

[MJB]

Yeah, she gets the long skinny legs, arms, fingers and feet from her dads family, they all have that! She also gets the scoliosis from his family, my DH and his sister have mild curves in their spine.

I'm pretty confident that she doesn't have Marfans Syndrome but I will keep it in mind if she ever seems to have organ issues in the future.