Table 2 Clinical findings in four autopsied Werner syndrome patients.
From: Werner syndrome through the lens of tissue and tumour genomics
Cardinal features | Patient 1 | Patient 2 | Patient 3 | Patient 4 |
|---|---|---|---|---|
cataracts | + | + | + | + |
dermatologic pathology | + | + | + | + |
short stature | + | + | + | + |
consanguineous parents/affected sib | + | + | − | − |
prematurely gray/thin scalp hair | + | + | + | + |
Additional features | ||||
diabetes mellitus | + | + | + | + |
hypogonadism | + | + | NA | NA |
osteoporosis | + | + | NA | + |
osteosclerosis of distal phalanges | + | + | NA | NA |
soft tissue calcification | + | + | NA | NA |
premature atherosclerosis | + | + | +* | + # |
WS-associated malignancy | − | meningioma | − | melanoma |
voice changes | + | + | + | + |
flat feet | NA | NA | + | + |
