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Updated: May 4, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Perlman syndrome: four additional cases and review

H T Henneveld1, R A van Lingen, B C Hamel

  • 1Wilhelmina Children's Hospital, Utrecht, The Netherlands.

American Journal of Medical Genetics
|October 6, 1999
PubMed

Insights

Perlman syndrome, a rare genetic disorder, involves kidney abnormalities and Wilms tumor. New cases highlight varied symptoms and suggest early kidney changes may precede tumor development.

Area of Science:

  • Genetics
  • Pediatrics
  • Oncology

Background:

  • Perlman syndrome is a rare genetic disorder characterized by nephromegaly, renal dysplasia, Wilms tumor, macrosomia, cryptorchidism, and facial anomalies.
  • First described in 1973, it has been observed in twelve children across six families, with autosomal recessive inheritance suggested.
  • The condition carries a severe prognosis, often resulting in neonatal death.

Observation:

  • This report details four new cases of Perlman syndrome from three families, with non-consanguineous parents.
  • Observed manifestations included cardiac defects, hepatic fibrosis, haemangioma, volvulus, intestinal atresia, agenesis of the corpus callosum, and cleft palate.
  • Two premature siblings presented with nephromegaly but lacked hamartomas or nephroblastomatosis.

Findings:

  • The study expands the known clinical spectrum of Perlman syndrome with novel and rarely reported features.
  • The findings support the hypothesis that dysplastic medullary parenchyma in preterm infants may progress to nephroblastomatosis and Wilms tumor.
  • All reported children succumbed within their first year of life.

Implications:

  • Early identification of renal abnormalities in preterm infants may aid in predicting the risk of developing Perlman syndrome.
  • Further research into the genetic and developmental pathways of Perlman syndrome is warranted.
  • Understanding the progression from renal dysplasia to Wilms tumor could inform future therapeutic strategies.

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