Letters to the Editor

Dysmorphic Findings in Persons with Fragile X Syndrome

Am Fam Physician. 2006 Feb 1;73(3):392.

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.

REFERENCES

1. Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician. 2005;72:111–3.

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.

REFERENCES

1. Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician. 2005;72:111–3.

2. Wattendorf DJ, Muenke M. The human genome project and its impact on developmental disabilites. In: Butler MG. Genetics of developmental diabilities. Marcel Dekker, Inc., 2005.

Send letters to Kenneth W. Lin, MD, MPH, Associate Deputy Editor for AFP Online, e-mail: afplet@aafp.org, or 11400 Tomahawk Creek Pkwy., Leawood, KS 66211-2680.

Please include your complete address, e-mail address, and telephone number. Letters should be fewer than 400 words and limited to six references, one table or figure, and three authors.

Letters submitted for publication in AFP must not be submitted to any other publication. Possible conflicts of interest must be disclosed at time of submission. Submission of a letter will be construed as granting the American Academy of Family Physicians permission to publish the letter in any of its publications in any form. The editors may edit letters to meet style and space requirements.


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