Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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 3 pediatric patients, ages 13 months to 3 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 3 patients revealed duplication of the region chromosome 11p15.5.

Original languageEnglish (US)
Pages (from-to)224-227
Number of pages4
JournalUrology
Volume100
DOIs
StatePublished - Feb 1 2017

ASJC Scopus subject areas

  • Urology

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