Stanhope's comment on asymmetry

[Guest guest]

Hello -

OK everyone. I am going to try and give you a condensement of 3

different emails Stanhope and I have had with regards to

several topics.

My question to him (from you all) was whether or not limb asymmetry

is limited to RSS children; that SGA children do not have limb

asymmetry.

Here are different parts of his answers:

" Asymmetry is the characteristic feature of Silver Syndrome

and occurs in about 50% of the cases but NEVER (or almost never) in

the milder form of RSS associated with matUPD7. "

Then he writes " I think there is a huge spectrum between non-

dysmorphic IUGR and dysmorphic IUGR and that we do not know the

etioogy of the condition. Indeed, it is a heterogenous etiology and

so it is not surprising that there are heterogenous findings. "

Well, I didn't completely understand all that, beyond " lots of

variation means lots of variation. "

So I asked him about dysmorphic SGA and non-dysmorphic SGA.

Dysmorphic SGA are typically the kids that are " almost " RSS -- this

means that they might have posteriorly rotated ears, or a bossed

forehead, or incurving of the pinkies. Some variation of

the " dysmorphology. " Other abnormally children are simply short.

Nothing else looks different about them, just that they are short.

He did point out that facial asymmetry alone is NOT considered the

body/limb asymmetry that is associated with RSS. So if your child

has facial asymmetry and that is it, that is NOT RSS -- and in fact,

it is quite common occurence within the general population.

Lastly, Stanhope wrote in his final email " although it woul dbe

unusual, a short SGA child, who is not RSS, could have limb

asymmetry. "

So, in a nutshell, I think the answer is that due to a number of

probably genotypes affecting RSS and SGA, there is a lot of

heterogeneity of the disorders. In virtually all cases of RSS and

dysmorphic SGA, limb asymmetry is going to occur only in the RSS

cases. However, we wouldn't want to say never....

Salem