WAGR syndrome: Is the 'R' always justified?

Cristiano Termine, Gian Parigi, Maura Rossi, Piero Romano, Umberto Balottin

Research output: Contribution to journalArticlepeer-review


Although mild-to-moderate intellectual disability is usually considered part of WAGR syndrome (Wilms' tumour (WT), Aniridia, Genital abnormalities, and metal Retardation, due to 11p13 deletion) the neuropsychological profile of the syndrome is little reported in the literature. We report about a 12-year-old boy presenting with WAGR syndrome (WT, right complete aniridia, bilateral cryptorchidism, interstitial deletion involving band 11p13) but with no mental retardation. An in-depth clinical evaluation revealed no behavioural or social problems and the child's neuropsychological profile was found to be within the normal range for all abilities and functions investigated (with the exception of an impulsive cognitive style and some difficulties in academic skills). This case underlines the importance of in-depth neuropsychological evaluation that includes not only IQ measurement, but also examination of attention and academic skills, in order to establish the complete phenotypical profile of WAGR patients, rather than labelling them as learning disabled (i.e. mental retardation).

Original languageEnglish
Pages (from-to)69-70
Number of pages2
JournalClinical Dysmorphology
Issue number1
Publication statusPublished - Jan 2007


  • Academic skills
  • Attention
  • Learning disability
  • Mental retardation
  • WAGR syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy


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