CHARACTERISTIC PHENOTYPE IN CONGENITAL NEPHROTIC SYNDROME

We present three children with congenital nephrotic syndrome and previ ously undescribed facial features. These include: (1) small mouth (int ercommissural distance < 3rd percentile); (2) tented upper lip; (3) sm all nose (interalar distance -2 SD below mean); (4) fullness of cheeks giving a 'jowly' appearance; (5) overhanging outer thirds of upper ey elids. These features may reflect prolonged tissue oedema and protein malnutrition in utero and early life. Conclusion Characteristic facial features in congenital nephrotic syndrome may reflect intra-uterine m alnutrition.