TABLE 1.
Clinical Features of Werner Syndrome Patients With Molecular Documentation of the Diagnosis*
| Sign or symptom | Percent frequency |
|---|---|
| Bilateral cataractsa | 100 (87/87) |
| Skin alterationsa | 98.6 (72/73) |
| Thin limbs | 98.4 (60/61) |
| Premature graying/hair lossa | 96.3 (79/82) |
| Pinched facial features | 96.1 (49/51) |
| Short staturea | 94.7 (71/75) |
| Osteoporosis | 90.6 (48/53) |
| Voice change | 89.0 (65/73) |
| Hypogonadism | 79.5 (35/44) |
| Type 2 diabetesmellitus | 70.8 (46/65) |
| Soft tissue calcification | 66.7 (28/42) |
| Neoplasm(s) | 43.6 (24/55) |
| Atherosclerosis | 39.5(17/43) |
| All four cardinal signsa | 90.9 (50/55) |
*
Clinical information was obtained at the time of referrals. Actual numbers of the cases where information was available is given in the parentheses. Diagnosis of atherosclerosis is based on the primary physicians' reports.
a
Cardinal signs (bilateral ocular cataracts, characteristic dermatological pathology, short stature, premature graying and/or thinning of scalp hair).