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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