You have accessJournal of UrologyPediatrics: Congenital Anomalies - Lower Urinary Tract & Genitalia II1 Apr 20121622 CONGENITAL GENITOURINARY ABNORMALITIES IN CHILDREN WITH WILLIAMS-BEUREN SYNDROME Zein Sammour, Cristiano Gomes, Jose Bessa, Marcello Pinheiro, Chong Kim, Carlos Sacomani, Homero Bruschini, and Miguel Srougi Zein SammourZein Sammour Sao Paulo, Brazil More articles by this author , Cristiano GomesCristiano Gomes Sao Paulo, Brazil More articles by this author , Jose BessaJose Bessa Sao Paulo, Brazil More articles by this author , Marcello PinheiroMarcello Pinheiro Sao Paulo, Brazil More articles by this author , Chong KimChong Kim Sao Paulo, Brazil More articles by this author , Carlos SacomaniCarlos Sacomani Sao Paulo, Brazil More articles by this author , Homero BruschiniHomero Bruschini Sao Paulo, Brazil More articles by this author , and Miguel SrougiMiguel Srougi Sao Paulo, Brazil More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2012.02.1417AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Williams-Beuren syndrome (WBS) is a rare genomic disorder caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Patients with WBS may have a variety of anomalies including congenital cardiac defects, peculiar facies, growth deficiency, neurodevelopmental disturbances and structural abnormalities of the urinary tract. Urological abnormalities have been reported as frequent in WBS patients, but studies are scarce and based mainly on chart reviews. In this study we comprehensively investigated the prevalence of urological anomalies in this population. METHODS In a prospective study, 79 consecutive patients with genetically confirmed WBS were evaluated, including 41 boys and 38 girls. The mean age was 8.9 ± 4.1 years (range 3 to 18). A focused urological physical exam was performed by the same investigator with attention to abdominal wall abnormalities as well as genital anomalies. Urinary tract sonography was obtained for all patients. Voiding cystourethrography was performed in patients whose parents agreed to participate in the complete study protocol. RESULTS Of the 41 boys, 30 (73.1%) had one or more abnormalities on physical examination inluding undescended testis in 17 (41.5%), inguinal hernia in 11 (26.8%), hypospadia in 4 (9.7%) and hydrocele in 1 (2.4%). Of the girls, 17/38 (44.7%) had abnormalities on physical examination, including umbilical hernia in 11 (28.9%), inguinal hernia in 7 (18.4%) and vaginal labia adhesion in 1 (2.6%). Urological sonography revealed hydronephosis in 7 (8.9%) patients, kidney stones in 2 (2.5%), duplex system in 2 (2.5%) and pelvic kidney, unilateral agenesia and urachal system affecting one patient each. Cystography revealed bladder diverticula in 27/52 (51.9%) and vesico-ureteral reflux in 3/52 (5.8%) No associations were found between the presence of physical examination abnormalities and uroradiological abnormalities (p=0.599). CONCLUSIONS Genitourinary abnormalities are very common in children with WBS. Undescended testis and/or inguinal hernias are present in more than two thirds of the boys while almost half of the girls have umbilical and/or inguinal hernias. In addition, bladder diverticula were present in most patients who performed cystography. Our results highlight the importance of an appropriate urological evaluation of this population. © 2012 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 187Issue 4SApril 2012Page: e655-e656 Advertisement Copyright & Permissions© 2012 by American Urological Association Education and Research, Inc.MetricsAuthor Information Zein Sammour Sao Paulo, Brazil More articles by this author Cristiano Gomes Sao Paulo, Brazil More articles by this author Jose Bessa Sao Paulo, Brazil More articles by this author Marcello Pinheiro Sao Paulo, Brazil More articles by this author Chong Kim Sao Paulo, Brazil More articles by this author Carlos Sacomani Sao Paulo, Brazil More articles by this author Homero Bruschini Sao Paulo, Brazil More articles by this author Miguel Srougi Sao Paulo, Brazil More articles by this author Expand All Advertisement Advertisement PDF downloadLoading ...