PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial features, and increased risk for Wilms' tumor.
[2] Characteristic facial features of Perlman syndrome include a hypotonic appearance with an open mouth, macrocephaly, upsweeping anterior scalp line, deep-set eyes, depressed nasal bridge, everted upper lip, and mild micrognathia.
[4] Diagnosis is made based on the individual's phenotypic features and confirmed by histologic examination of the kidneys and/or molecular genetic testing.
[7] Perlman syndrome is associated with a high neonatal death rate due to renal failure and/or refractory hypoxemia.
[8] Most individuals who survive beyond the neonatal period develop a Wilms' tumor; nearly all display some degree of developmental delay.