Perlman syndrome ( renal hamartomas , nephroblastomatosis and fetal gigantism )

Note: The Perlman syndrome is characterized by polyhydramnios, fetal overgrowth, neonatal macrosomia, high neonatal mortality, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis and a predisposition for Wilms tumor at very early age. Inheritance: Inheritance is of an autosomal recessive nature. Etiology: The genetic basis of the Perlman syndrome is unknown and there is no conclusive laboratory test to confirm the diagnosis. Although both sexes are affected, the sex ratio is 2M:1F. The diagnosis is based on characteristic features and confirmed by histological renal evidence. The syndrome has been described in both consanguineous and non-consanguineous couplings.