Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour

Eur J Pediatr. 1992 Dec;151(12):895-8. doi: 10.1007/BF01954125.


Though children with Perlman and Wiedemann-Beckwith syndromes have a number of features in common, the two conditions are probably separate entities. The distinction may not always be easy, however, partly because of the extreme rarity of Perlman syndrome, only nine cases of which have been reported so far. We report two siblings, initially diagnosed as having Wiedemann-Beckwith syndrome, in whom the correct diagnosis of Perlman syndrome was made only after an autopsy on the second child. By comparing and contrasting the features of Perlman and Wiedemann-Beckwith syndromes in this report we hope to make it easier to distinguish the two conditions.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Beckwith-Wiedemann Syndrome / complications*
  • Beckwith-Wiedemann Syndrome / diagnosis
  • Beckwith-Wiedemann Syndrome / genetics
  • Cryptorchidism / complications
  • Cryptorchidism / genetics
  • Diagnosis, Differential
  • Face / abnormalities*
  • Female
  • Humans
  • Infant, Newborn
  • Kidney Neoplasms / complications*
  • Kidney Neoplasms / diagnosis
  • Kidney Neoplasms / genetics
  • Male
  • Pregnancy
  • Syndrome
  • Wilms Tumor / complications*
  • Wilms Tumor / diagnosis
  • Wilms Tumor / genetics