Hello group-
I have a pediatric case that I would like to get some input from colleagues on.  A now 5 month old male, first picked up on prenatal ultrasounds with bilateral upper limb abnormalities.  After delivery was noted to have marked hypoplasia of right humerus and right radius, with single rudimentary carpal and phalanx.  Marked hypoplasia of left humerus, absent left radius and hand.  Echo normal other than mild PDA (born at 37 weeks due to maternal hypertension).  Pregnancy significant for gestational diabetes that was difficult to control.  Exam of the baby at birth did not show any other dysmorphic features, we considered Holt Oram but did not really feel that it was warranted clinically.  The geneticist seemed to think that gestational diabetes could explain this.  Since then, MRI done because L pupil was staying dilated; showed lesion in left posterior frontal region.  Thought to be gray matter or cavernous angioma.  So now I am wondering about some type of vascular/clotting problem.  Any specific testing that people would recommend?  
 
We'll be seeing the patient on the 30th so any input or thoughts are appreciated!
Robin
 
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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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