Thanks, Robin.  How about if I put my thinking cap on March 7th.  It'll
hurt too much if I put it on now...  Later...

Jerry 

-----Original Message-----
From: Communication for the Heartland Regional Genetics Group
[mailto:[log in to unmask]] On Behalf Of Troxell, Robin M.
Sent: Wednesday, February 21, 2007 3:09 PM
To: [log in to unmask]
Subject: Re: thoughts on a case

I talked to the cardiologist and they think the dissection was just a
complication of the surgery.  But he's freaked out because the pulmonic
valve is so thick, and that this kid looks IDENTICAL to his brother.
think genetics, people!  comments I've gotten include Loeys Dietz and
Toriello-Carey as well.  Put on your thinking cap, he's coming on
March8th!
Robin

________________________________

From: Communication for the Heartland Regional Genetics Group on behalf
of Gorski, Jerome L.
Sent: Tue 20-Feb-07 8:15 PM
To: [log in to unmask]
Subject: Re: thoughts on a case



Hi Robin,

Thanks for yoru message.  The family sounds interesting.  There are
quite a few syndromes that have pulmonic stenosis as a component.  I
agree with the Noonan/CFC/Costello constellation as a possiblity.  I'm
skeptical about the dissecting aneurysm being a component, especially
since the dissection occurred after the balloon dilation (one might have
inflated that thing just a little too far...).  Alligille and William
syndromes are other possibilities.  I guess that we'll have to see the
child and make a diagnosis.  I hope tht this helps.  See you next week.
Later...

Jerry


-----Original Message-----
From: Communication for the Heartland Regional Genetics Group on behalf
of Troxell, Robin M.
Sent: Tue 2/20/2007 3:31 PM
To: [log in to unmask]
Subject: thoughts on a case

Hello - I have a referral for an infant who is mildly dysmorphic with a
broad forehead and frontal bossing, relative macrocephaly, prenatally
had prominent third ventricle, and postnatally has pulmonic stenosis
with thickened pulmonic valve.  He had a brother who had identical
dysmorphic features, prominent third ventricle on prenatal US and
postnatally, pyelectasis, and pulmonic stenosis.  He underwent balloon
dilitation w/o complications and died about four days later after sudden
collapse.  Autopsy showed possible dissecting aneurysm of pulmonary
artery?  PCP has ordered head ultrasound, renal ultrasound and genetics
consult for this child.  We had been consulted on the older child but he
died before we saw him.  Both are males.  The only family history I have
is that mom is 5' tall and 'not the brightest' per referring but she is
an RN.  Any specific disorder, maybe connective tissue? that comes to
mind?  I'm thinking of maybe CFC/Costello.

Robin
************************************
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health Mercy St. John's
Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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