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To the Editor.
—In the July issue of the Archives (90:53-56, 1973), Drs. Bullock and Howard reported a case of Werner syndrome. I find the diagnosis unconvincing because of the number of atypical features, which are as follows:
Age of presentation. Cataract is commonly present by the age of 20, and by the age of 30 causes severe visual impairment. In more than 100 reported cases, only about 30 patients were over the age of 40 at diagnosis, mostly either relatives of patients with the syndrome who did not show the full picture, or patients in whom the diagnosis was missed at earlier examinations.
Looseness of paper-like skin around the knees and ankles may be seen early in the disease, but tautness of skin over the face and extremities and ulceration are the characteristic features later.
It is unusual for these patients to father children, since hypogonadism
Kohner EM. Werner Syndrome Disputed. Arch Ophthalmol. 1974;91(4):332. doi:10.1001/archopht.1974.03900060342020