Expanding the spectrum of the Perlman syndrome

Am J Med Genet. 1988 Apr;29(4):773-6. doi: 10.1002/ajmg.1320290406.


We report on an infant with manifestations of Perlman syndrome including polyhydramnios, macrosomia, bilateral nephromegaly with nephroblastomatosis, visceromegaly and cryptorchidism. Other findings in this infant not seen in previous patients were diaphragmatic hernia, interrupted aortic arch, hypospadias and polysplenia. This infant meets the diagnostic criteria for Perlman syndrome, suggesting that diaphragmatic hernia and cardiac defects may be additional findings in this disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Heart Defects, Congenital / genetics
  • Hernia, Diaphragmatic / genetics
  • Humans
  • Infant, Newborn
  • Kidney Neoplasms / genetics
  • Male
  • Neoplastic Syndromes, Hereditary
  • Syndrome
  • Wilms Tumor / genetics