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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 + +/− +/− +/− +