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April 1974

Werner Syndrome Disputed-Reply

Author Affiliations

New Haven, Conn

Arch Ophthalmol. 1974;91(4):332. doi:10.1001/archopht.1974.03900060342021

To the Editor.  —A syndrome represents "a set of symptoms that occur... in a morbid state."1 In Werner syndrome, no biochemical defect has yet been demonstrated and no laboratory test or histopathologic feature is pathognomonic, and so the diagnosis must be based on the presence or absence of characteristic signs and symptoms. The characteristic features of Werner syndrome include growth arrest; premature graying, balding, arteriosclerosis, and cataracts; scleroderma-like changes of the extremities; reduction of muscle mass and subcutaneous tissues; chronic ulcers, particularly of the feet; beakshaped nose; impaired carbohydrate tolerance; hypogonadism; osteoporosis; localized soft tissue calcification; thin, high-pitched voice; circumscribed hyperkeratoses; and a history of consanguinity or familial involvement. Our patient had most of these features and, in addition, died suddenly at age 47 after our communication (90:53-56, 1973) was submitted. Premature death is another characteristic of Werner syndrome.A moderate variation occurs in the appearance and severity of separate

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