“As future physicians, it’s absolutely essential for you to be able to recognize features of genetic disorders in your patients,” Dr. Lena Lombardo stated, moving to a PowerPoint slide featuring a child with Down syndrome.
“Down syndrome, or trisomy 21, is easy to identify: upslanting palpebral fissures, flattened midface, macroglossia, and low-set, posteriorly rotated ears. These children may also have abnormalities of the hands and feet, such as a single palmar crease.”
The first-year medical students of the Zhivago School of Medicine stopped browsing Facebook to look at their own hands and those of their neighbors, worried that they might carry a dysmorphism of unknown significance.
Dr. Lombardo continued. “Many common genetic conditions are not as easy to identify, however, and may only become obvious with age. Take, for example, Marfan syndrome – a mutation in the FBN1 gene on chromosome 15 causes the body’s connective tissues to weaken, leading to a typical appearance of a tall, thin body with chest wall deformities and joint laxity.” She pointed at Derek Cohen, a gangly young man with thick glasses. “You, in the maroon sweater! Yes, you. Stand up, will you?”
Derek hesitated but stood up. Dr. Lombardo smiled. “What good fortune, ladies and gentlemen – we have an excellent example of a Marfanoid habitus with us today! Look at this fellow’s unusually long limbs and obvious myopia; that’s a dislocated lens waiting to happen. I’d recommend you get an echocardiogram done before that aorta ruptures.” Derek sat down quickly, cheeks matching his sweater.
“Marfan patients also tend to have a characteristic facial appearance. This young woman in the front row could probably pass for a Marfan – note her long, narrow face and receding chin. This is called dolichocephaly.”
Over the course of the remaining 45 minutes, Dr. Lombardo struck fear and embarrassment into the hearts of several other students who possessed hypertelorism, synophrys, a flat occiput, and a carp-shaped mouth.
