Dysmorphic Findings in Persons with Fragile X Syndrome

to the editor: The article, “Diagnosis and Management of Fragile X Syndrome,”¹ in the July 1, 2005, issue of American Family Physician by Drs. Wattendorf and Muenke was concise and enlightening. However, I was perplexed by the photo in Figure 1 of the article,¹ which intended to portray the “dysmorphic findings” of this syndrome. After having noted nothing out of the ordinary about the young man in the picture, I covered the caption and showed the photo to a number of colleagues. Not one thought there was anything remarkable about the young man’s appearance; even upon reading of the features purported to be depicted, not one colleague concurred that the photo portrayed anything that we would consider dysmorphic. All agreed that he is a typical young male in appearance.

IN REPLY: We were pleased with Dr. Reynolds’ response to our article, “Diagnosis and Management of Fragile X Syndrome.”¹ The boy in Figure 1 of our article¹ has classic facial findings of fragile X syndrome. As with other articles in this series, we tried to include photos of patients with genetic syndromes who have subtle dysmorphic findings. These are patients whose diagnosis has been missed because they do not have the “typical” findings (i.e., the most severe) shown in photographs in older genetic textbooks. The goal of this series of short reviews is to familiarize the family physician with the diagnosis and management of patients with various genetic syndromes. Many of these are not obvious at birth or in early childhood, and delayed diagnosis may lead to missed opportunities for early interventions. Patients with various degrees of developmental and cognitive differences who have only mildly to moderately abnormal facial features require a detailed work-up to arrive at the specific diagnosis.² We will be delighted if further articles in this series also will be discussed among readers and their colleagues.