AAP: Are you looking at a genetic syndrome?

October 14, 2008

A 14-year-old boy who recently moved to the area comes to your practice for a sports physical. When you enter the exam room, you are immediately struck by his stature; he is tall and thin, with long arms and legs. He is also wearing glasses. You greet your patient first, and then stretch out your hand to greet Mom, who rises from a chair in the exam room. You note that Mom is markedly tall as well. The question for you is: Is this Marfan syndrome, or is your patient simply near-sighted and naturally tall?

A 14-year-old boy who recently moved to the area comes to your practice for asports physical. When you enter the exam room, you are immediately struck by hisstature; he is tall and thin, with long arms and legs. He is also wearing glasses.You greet your patient first, and then stretch out your hand to greet Mom, whorises from a chair in the exam room. You note that Mom is markedly tall as well.The question for you is: Is this Marfan syndrome, or is your patient simply near-sightedand naturally tall?

Mira Irons, MD, Associate Chief of Genetics at Children’s Hospital Boston,outlined this dilemma along with other quandaries for the pediatric populationin her talk, “Treatable Genetic Disorders Every Pediatrician Should Recognize,”presented at this year’s AAP conference. “If I had one wish, I wouldwant a gene chip for connective tissue disorders [eg, Marfan Syndrome]. However,there is still no good molecular test,” says Irons.

So what advice does Irons have for pediatricians who suspect Marfan or other treatablegenetic syndromes? With respect to Marfan Syndrome, it is important for pediatriciansto keep in mind that the hallmark of this condition is not that the patient willbe tall with long arms and legs, but rather that they “will look disproportionate,”notes Irons. Other signs are long fingers, high palettes, crowded teeth, and striae-particularlyin weird places (eg, the lower back). “If your patient meets these criteria,the likelihood is that it is Marfan Syndrome,” says Irons.

Irons also apprised the audience of the latest evidence on other treatable geneticsyndromes, such as Turner Syndrome. This syndrome, which will typically appearin the newborn period, is characterized by a short or webbed neck, and very puffyhands and feet. The most telling symptoms, however, are lasting short statureand ovarian failure. In terms of treatment, “we now have evidence that showsthat growth hormone therapy does increase height in girls with Turner Syndrome,”reports Irons. That is good news.