A WAGR Syndrome Case with Postaxial Polydactyly

摘要

Summary The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mentalRetardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typicalWAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and predisposition to nephroblastomaare related to hemizygosity for the Wilms tumor suppressor gene WT1. We report an 8-year-old boy with WAGR syndrome and additionalunusual clinical features. He had developmental delay, growth deficiency, severe ocular involvement, operated Wilms tumor and postaxial polydactyly.Cytogenetic and fluorescent in situ hybridization (FISH) analyses identified a deletion, del (11) (p11.2p13). Although the simultaneous appearanceof WAGR and preaxial polydactyly has been already described, to our knowledge this is the first case in which the postaxial polydactyly isreported. The unusual anomalies described in this report may be another features of the WAGR syndrome and suggest the existence of a related genein the WAGR critical region or in its proximity. Top