Table 1 Overview of clinical features of 7 patients
From: A family with Milroy disease caused by the FLT4/VEGFR3 gene variant c.2774 T > A
Patient | Onset at birth | Congenital bilateral lower limbs lymphedema at birth | Deep creases over the toes | Congenital hands edema | Brawny texture of the skin | Small dysplastic toenails ('ski jump') | Swelling of the scrotum | Hypoproteinemia | Lymphedematous | Edema extends to the thigh | Epicanthic folds and down-slanting palpebral fissures | Aggravated edema caused by cold | Tissue overgrowth, of connective and adipose tissue |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
I1 | + | + | ++ | − | + | + | − | − | − | + | − | + | − |
II1 | + | + | ++ | − | + | + | − | − | − | − | − | − | + |
II2 | + | + | + | − | + | + | − | − | − | − | − | − | − |
II4 | + | +/− | +/− | − | +/− | + | − | − | − | − | + | − | − |
II6 | + | + | + | − | + | + | − | − | − | − | − | − | − |
III3 | + | + | + | − | + | + | − | − | − | − | − | − | − |
III4 | + | +/− | +/− | − | +/− | + | − | − | − | − | − | − | − |