Characteristic phenotype in congenital nephrotic syndrome.

Abstract excerpt

We present three children with congenital nephrotic syndrome and previously undescribed facial features. These include: (1) small mouth (intercommissural distance < 3rd percentile); (2) tented upper lip; (3) small nose (interalar distance -2 SD below mean); (4) fullness of cheeks giving a 'jowly' appearance; (5) overhanging outer thirds of upper eyelids. These features may reflect prolonged tissue oedema and...

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