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Brusa-Torricelli syndrome

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A congenital syndrome in which aniridia (congenital absence of the iris) and nephroblastoma (Wilms' tumour) is associated with mental retardation, craniofacial defects (microcephaly), growth retardation and skeletal anomalies, deformed pinna, genitourinary anomalies, hamartomas, and umbilical and inguinal hernias. Other frequent features include cataract and glycoma, hypospadias, hemihypertrophy, and horseshoe kidney. The syndrome affects both sexes but is more frequent in males. Since the early 1980s this disorder has commonly been referred to as WAGR syndrome.

We thank Kelly Trout of the International WAGR Syndrome Association for for information submitted.


  • P. Brusa, C. Torricelli:
    Nefroblastoma di Wilms ed affezioni renali congenite nelle casistiche dell’ IIPAI di Milano.
    Minerva pediatrica, Torino, 1953, 5: 457-463.
  • R. W. Miller, J. F. Fraumeni, M. D. Manning:
    Association of Wilms tumor with aniridia, hemihypertrophy, and other congenital malformations.
    The New England Journal of Medicine, 1964, 270: 922-927.
    Miller and colleagues analysed 440 cases of Wilms tumor and noted that approximately 2 of them also had severe hypoplasia of the iris (aniridia). The association of aniridia and Wilms tumor is now well documented and more than 50 patients have been reported. The condition is autosomal dominant with inconsistent phenotypic expression.

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