Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

["Vern Green" <EMAIL:PROTECTED>]

I promised to upload some pictures tonight, here they are on Picasa:

 

http://picasaweb.google.com/hayvern/JeremySHands

You might also notice another genetic trait. This one he and I clearly share, as does my older son, my sister, and I think my mother. We all had the crooked little finger. I do not think that trait is tied in anyway to what we are seeing here with Holt-Oram, but maybe I am wrong.

 

 

On Wed, Mar 12, 2008 at 10:26 AM, Vern Green <EMAIL:PROTECTED> wrote:

Thanks to everyone for the support and the knowledge you bring. I get so much more out of this list for items that are not computer related interestingly enough.

 

Vern -- I am so sorry to hear this.  I was wondering if things were OK
because I wasn't hearing as much from you lately.  Hang in there.

 

We have known about the more important issue for a while, but there is always concerns when doctors are considering open heart surgery. It was a tough thing to hear the cardiologist basically saying they were going to stop your little baby's heart and open it up to fix holes.

 

Luckily, he has been responding well and the holes seem to be closing on their own. Both the pediatrician and the cardiologist are saying he will likely not need surgery at this point, but we are still watching him.

 

I think as a parent, I just want to know what he has to look forward to more than this being any specific problem we have to overcome.

 

I think I get it -- his thumb looks like a finger, right?  And he has 5
digits on all extremities?  Do you have a photo?

 

Yeah, you got it. I will try and take some pictures tonight. To best describe it:

 

When he holds his hand normally, it looks like a thumb that is attached right at the base of his index finger, however it seems to have a thumbs range of motion. That is to say that this digit can move left-to-right and end up at a 90 degree angle from the hand, kind of like a thumb does.

 

However, when he tries to grip my finger, his thumb does not wrap around the bottom like a normal thumb, it acts more like a fifth finger and wraps over the top.

 

OMIM is the place to go for technical info:

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142900

That sounds like something definitely worth looking into.  There is a lot
of heterogeneity with different mutations of the gene causing different
effects.  I'd guess that a lot of the cases are due to new mutations so
that you don't see others affected in the family.

Your son might have this syndrome, or some other genetic syndrome.  Your
observation of the hand abnormality is undoubtedly a very important clue.

I talked to the pediatrician today, he seemed to think we were on the right track, he mentioned having tests done, but that there is no real reason to rush this ahead of our regularly scheduled visit.

My best wishes to you and your family,

Thank to everyone for all the great information. I will keep you informed on what is going on.

--
Thanks
F Vernon Green

-- 
Thanks
F Vernon Green 
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