Perlman syndrome
Perlman syndrome
Definition
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
Also known as nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour, nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome, nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour, Perlman syndrome, renal hamartomas, nephroblastomatosis and fetal gigantism, renal hamartomas, nephroblastomatosis and foetal gigantism — per MONDO