This past spring I had the honor of announcing my first graduate of our pediatrics-genetics residency program at the year- end pediatrics graduation dinner. The pediatrics department puts on a nice event, complete with a slide show for each graduating resident that includes their personal pictures—them as a baby, their spouses, and for some their children. When my turn came to present my resident, I made the comment that it was a dangerous practice to show a dysmorphologist your baby pictures. The line got a good laugh.
Like most dysmorphologists, I assume, I am well known among the residents and medical students for my ability to identify abnormal physical findings—wide set eyes, unusual ears, odd creases on the palm—all of the type of findings that we as dysmorphologists focus on and use to make a genetic syndrome diagnosis. But the skill of identifying them, while it can be demonstrated, is impossible to teach.
I was first exposed to dysmorphology during my pediatric residency. I was first intrigued, then astounded, by Dr. Robert (“Bob”) Marion. He would roam the halls, peak in on patients, and after a moment identify the child's syndrome—it was almost magical to my intern eyes. Bob made the practice of genetics seem like a mix of puzzle solving with life-and-death humanity. I was quickly hooked (Bob failed to mention, of course, the poor reimbursement rate, but I digress).
During my residency I spent as much time as I could with Bob, and with Dr. Robert Shprintzen, who was also at Montefiore. I learned a lot about genetics, including that dysmorphology could not be taught. This cold hard fact was further driven home during my fellowship at CHOP under Elaine Zackai. Elaine would tell me what she saw—wide set eyes, cupped ears—but not how she saw it. It was like a cardiologist placing the bell of my stethoscope in the exact position to hear a murmur. He heard tetralogy of Fallot, I heard only a whoosh.
I learned dysmorphology by accident. My wife was a pediatric resident during my fellowship, and I was left alone with our 5-month-old son for days on end (this was pre-duty hour restrictions). He liked long walks, so we took to the malls to avoid the Philadelphia summer heat. To amuse myself, I started to play a game. I'd stare at families—parents and their children, and ask myself “How did these two parents, with their facial characteristics, produce that child?” I would study the faces and track the specific facial features—the eyes, ears, nose, mouth, chin—from one parent to the child. I began with individual facial characteristics, to see the “trees within the forest” of the face. Soon, at the hospital I began to “see” the facial characteristics of syndromes. From that point it was a small step to learn how to see the other physical characteristics of syndromes—the chest, the hands and feet, the body habitus. I tell this story often, when a resident or medical student asks me what I am looking at as I examine a child. I know what they are asking, and I also know they will not like the answer. It is just very hard to teach others to “see” dysmorphology.
The “Mall” experience also lead to the “Mall Test.” I know it is not uniquely my invention, and many colleagues have their own name for it. When examining a patient with subtle dysmorphic findings I ask myself, “Would I notice him if I saw him in the mall?” The children (and adults) in my clinic are not from the general population—they come to see me for a reason—e.g., cleft lip, intellectual disability. So I am especially careful to scrutinize their appearance looking for the subtle signs that point to a syndrome. “But we all have minor dysmorphia,” I tell the students and residents, “these signs have importance only in the context we see them. So while a single palmar crease is common in Down syndrome it can also be seen in the general population.” (At that everyone starts looking at their palms.)
“So, Dr Robin, when you're at the mall, do you check out everyone?”
“Absolutely, I reply, it is one of the fun parts of being a geneticist. I see people with syndromes all the time, whether they know it or not.”
“I'll never let you see my baby,” more than one resident has said to me.
“I wouldn't if I was you,” I reply, always with a smile.
We may not get paid a lot, but we do have some perks to this job.