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Abstract #12747 Published in IGR 7-3
WAGR syndrome: a clinical review of 54 cases
Fischbach BV; Trout KL; Lewis J; Luis CA; Sika MPediatrics 2005; 116: 984-988
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is clinically associated with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). Although the genotypic defects in WAGR syndrome have been well established, the large variety of phenotypic manifestations of the syndrome has never been reported. We report on 54 cases of WAGR syndrome to demonstrate both the classical clinical signs and nonclassical manifestations found in a large population of individuals with this disorder. An understanding of WAGR syndrome and its clinical findings can provide important insight regarding the functions of the involved genetic region. Recommendations for diagnosis, evaluation, and surveillance of patients with WAGR syndrome are also presented.
Dr. B.V. Fischbach, Division of Nephrology, Department of Medicine, Vanderbilt Medical Center, Nashville, Tennessee, USA. fischbachb@dneph.com
Classification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
