Perlman syndrome: four additional cases and review

Am J Med Genet. 1999 Oct 29;86(5):439-46.


Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cryptorchidism / genetics
  • Face / abnormalities*
  • Female
  • Fetal Macrosomia / genetics*
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Jews / genetics
  • Kidney / abnormalities*
  • Kidney / pathology
  • Kidney Neoplasms / genetics
  • Male
  • Netherlands
  • Wilms Tumor / genetics
  • Yemen / ethnology