Interventional Cardiology Expert Forum
Noonan's Syndrome
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Noonan's Syndrome

I wasn't sure where the best place to post this would be.

I have a question regarding Noonan's Syndrome if anyone has any expertise.  I have 3 children that have had various health problems.  Doctors have told us there is no connection.

One son was born with Tetralogy of Fallot.  He was also born with a two vessal cord, subglottic stenosis, and anal stenosis.  This child has some issues at school.  Many teachers state that he has ADHD and have suggested we look into medication, but I have not been comfortable with this.  I have also noticed that his lips and eyebrows do not look like the other childrens.  Also, my son is almost 10 yrs old and only weighs 50 lbs.  He is short, but not to an extent that red flags have went up.  Recently, he has had what appears to be blood in his urine, but when tested no blood was present.  Although, the test revealed his urine was high in protein. He has an upcoming appointment and I am going to request that his urine be tested for myoglobin. The only other issues that this child has is that he is prone to cavities and he had feeding problems at birth due to a high palate and poor oral-motor skills.

Another son has been diagnosed with ideopathic short stature and is receiving growth hormone treatment.  He also had an episode where his shoulder seemed to dislocate on its own.  When the doctors tried to relocate it, they decided that his shoulder just sits very loose in its socket and was not actually dislocated.  This son has pretty severe mood problems.

Another son has pectus excavatum and is able to dislocate his own shoulder.  The shoulder area will stretch to the extent that the tissues resemble when someone is stretching taffy.  He was also born with bilateral vesicoureteral reflux and has asthma.

Another son has no health issues that we have seen.  He is the youngest.

I know not all, but many, of these things are associated with Noonan's syndrome.  Should I pursue getting my kids tested for Noonan's?
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It certainly sounds like there could be a genetic abnormality and Noonans is a possiblity.  I would recommend a genetic evaluation.
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