Urological Findings in Beckwith-Wiedemann Syndrome with Chromosomal Duplications of 11P15.5: Evaluation and Management

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder with various congenital anomalies. Although the most classic constellation includes macrosomia, macroglossia, and omphalocele, nephrourological findings are commonly associated with BWS. Clinical presentation is highly variable because of its complex molecular heterogeneity, which involves changes in DNA methylation and disruption of growth regulatory genes. We report three pediatric patients, ages thirteen months to three years old, who presented with clinical features consistent with BWS. A variety of nephrourological abnormalities were also noted, including posterior urethral valves, hydroureteronephrosis, and undescended testes. Genetic testing for all three patients revealed genetic duplication of chromosome 11p15.5.

Urology. 2016 Sep 07 [Epub ahead of print]

Carmen C Tong, Kelly A Duffy, David I Chu, Dana A Weiss, Arun K Srinivasan, Douglas A Canning, Jennifer M Kalish

Department of Urology, Einstein Healthcare Network, 1200 Tabor Road, Moss/3 Sley, Philadelphia, PA, 19141.. Electronic address: ., Division of Human Genetics, The Children's Hospital of Philadelphia and Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399.. Electronic address: ., Division of Urology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399.. Electronic address: ., Division of Urology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399.. Electronic address: ., Division of Urology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399.. Electronic address: ., Division of Urology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399.. Electronic address: ., Division of Human Genetics, The Children's Hospital of Philadelphia and Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399.. Electronic address: .