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

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• 作者：Carmen C. Tong<sup>asup> ; Kelly A. Duffy<sup>bsup> ; David I. Chu<sup>dsup> ; Dana A. Weiss<sup>dsup> ; Arun K. Srinivasan<sup>dsup> ; Douglas A. Canning<sup>dsup> ; Jennifer M. Kalish<sup>bsup><sup> ; sup><sup>csup><sup> ; sup><sup>kalishj@email.chop.edusup>
• 刊名：Urology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：100
• 期：Complete
• 页码：224-227
• 全文大小：466 K
• 卷排序：100

文摘

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.