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Picture of the Month
Karen D. Tsuchiya, MD;
Miriam Forsythe, MS;
Nathaniel H. Robin, MD;
Walter W. Tunnessen, Jr, MD
From the Departments of Genetics, Center for Human Genetics (Drs Tsuchiya and Robin and Ms Forsythe), and Pediatrics (Dr Robin), Case Western Reserve School of Medicine, and University Hospitals of Cleveland, Cleveland, Ohio; and the American Board of Pediatrics, Chapel Hill, NC (Dr Tunnessen).
Arch Pediatr Adolesc Med. 1998;152:89-90.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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THREE SIBLINGS are depicted in Figure 1. The girl, aged 9 years, is flanked by her 8-year-old fraternal twin brothers. The twin on the left of the photograph is mentally retarded and the twin on the right is not.
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Figure 1.
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Denouement and Discussion: Fragile X Syndrome
Figure 1 shows that compared with his unaffected brother, the mentally retarded twin has a relatively long face, large ears, and a prominent jaw and forehead.
Fragile X syndrome is the most common form of inherited mental retardation, affecting approximately 1 in 1250 males and 1 in 2500 females. Because of the variable and often subtle nature of its physical manifestations, the syndrome may be difficult to diagnose clinically.1 As young children, fragile X males tend to be taller than their age-matched controls.2 On physical examination, other common findings include joint hyperextensibility, . . . [Full Text of this Article]
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