I remember the urgency in Andy James’s voice when I got the call for an emergency genetics consultation. I can’t put my finger on it, Bob, but something’s bothering me about this baby, he said. Something’s not right, and I’m not sure what it is. Can you get over here right away?
Coming from Andy, the head of our newborn intensive care unit and one of the best neonatologists I’d ever met, those words meant a lot. But when I saw the baby, just four hours old, lying before me in his Plexiglas isolette, I had trouble seeing what had bothered Andy so. Sure, Edwin Rivera was small: at 4 pounds, 11 ounces, he was a good 2 pounds below the expected weight for a full-term newborn. But there are dozens of causes for low birth weight, only a few of which are ultimately attributable to genetic abnormalities.
I could see that Edwin was breathing without difficulty and that he was moving his arms and legs symmetrically, one side mirroring the other, as it should. His head and facial features were of normal size and shape, and his neck and trunk looked perfect. My subsequent exam pretty much confirmed my initial impression: except for his strikingly small size and enlarged liver and spleen, this baby seemed perfectly normal.
Well, Bob, what do you think? he asked.
I shook my head. I can’t find much wrong, Andy. He is small, and his liver and spleen are enlarged, but that’s about all I can find.
