Perlman syndrome

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

Hernia



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PMID (PMCID)
2840828
 MALE Infant, Newborn
Expanding the spectrum of the Perlman syndrome.
Greenberg F, Copeland K, Gresik MV.
Am J Med Genet. 1988;29(4):773-6.
This infant meets the diagnostic criteria for Perlman syndrome, suggesting that diaphragmatic hernia and cardiac defects may be additional findings in this disorder.