Re: [MLUG - DISCUSSION] Holt-Oram Syndrome

["Jonathan King" <EMAIL:PROTECTED>]

On Wed, Mar 12, 2008 at 10:31 PM, Vern Green <EMAIL:PROTECTED> wrote:
>
> On Wed, Mar 12, 2008 at 10:11 PM, Jonathan King <EMAIL:PROTECTED>
> wrote:
> >
> > On Wed, Mar 12, 2008 at 7:35 PM, Vern Green <EMAIL:PROTECTED> wrote:
> > > I promised to upload some pictures tonight, here they are on Picasa:
> > >
> > > http://picasaweb.google.com/hayvern/JeremySHands
> >
> > As you point out, it is *not* easy to get the clear pictures you might
> > want of an infant's hands. :-)
> >
> > That said, I think i do see what you are getting at here, and Jeremy's
> > left hand does not look the same as his right. That said, Google can
> > point you towards images of this that are far more extreme looking (in
> > older kids and adullts). One typical thing you might also "see" here
> > is his thumb having three segments, but that would be tricky to see in
> > an infant hand without an X-ray.
>
> The doc wants to x-ray his hands and arms the next time he comes in. I would
> normally object to having X-rays so soon in life, but I think I will go
> ahead with it this time. If I can get images I will post them as well. It
> will be a couple more weeks.

If it were just an issue of having the images so you could just say
"well golly! the kid has an extra bone in his left thumb!" then I
would agree with you. But in this case, it really could be helpful
insofar as it could potentially nail down a diagnosis of Holt-Oram and
rule out other explanations for the cardiac condition, which you would
prefer to have a solid explanation for. ("Idiopathic" essentially
means "we have no clue why this disorder happened so we don't know
what specifically we could do to treat it")

> > > 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.
> >
> > It's probably different. Look here:
> >
> > http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114200
>
> I don't know what all that meant,

OK, so that wasn't exactly pellucid; sorry. (My brother has the type
that also includes petellar subluxation, a fancy way of saying that
his kneecaps could easily become dislocated which is just as nasty as
it sounds.)

> but I know that it is present in at least
> two generations of my family, probably three as well, just looked through
> some old pictures of my dad's hands and apparently he had the crooked finger
> issue as well. My mother did not.

This is conjectured to be an autosomal dominant trait of variable
penetrance. In other words, if one of your parents has it, you are
likely but not certain to have it as well. There is an active
discussion in the literature about whether or not this suggests there
is an interaction between the genotype and some environmental
stressor. More bluntly, maybe you won't get the crooked pinky even if
you have the "bad" gene if the environment is especially conducive to
not developing that abnormality.

jking

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