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

doi:10.1016/j.urology.2016.08.037

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

Urology

Research output: Contribution to journal › Article › peer-review

6 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 language	English (US)
Pages (from-to)	224-227
Number of pages	4
Journal	Urology
Volume	100
DOIs	https://doi.org/10.1016/j.urology.2016.08.037
State	Published - Feb 1 2017

ASJC Scopus subject areas

Urology

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10.1016/j.urology.2016.08.037

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@article{79f6923002cf490f8fba47cb83a5fce9,

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

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.",

author = "Tong, {Carmen C.} and Duffy, {Kelly A.} and Chu, {David I.} and Weiss, {Dana A.} and Srinivasan, {Arun K.} and Canning, {Douglas A.} and Kalish, {Jennifer M.}",

note = "Funding Information: Funding Support: NIH K08CA193915, St. Baldrick's Foundation, and Alex's Lemonade Stand Foundation. Publisher Copyright: {\textcopyright} 2016 Elsevier Inc.",

year = "2017",

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doi = "10.1016/j.urology.2016.08.037",

language = "English (US)",

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T1 - Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5

T2 - Evaluation and Management

AU - Tong, Carmen C.

AU - Duffy, Kelly A.

AU - Chu, David I.

AU - Weiss, Dana A.

AU - Srinivasan, Arun K.

AU - Canning, Douglas A.

AU - Kalish, Jennifer M.

PY - 2017/2/1

Y1 - 2017/2/1

N2 - 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.

AB - 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.

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

Abstract

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