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 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.
Department of Urology, Einstein Healthcare Network, Philadelphia, PA.
Carmen C
CC
Tong
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA.
Kelly A
KA
Duffy
Division of Urology, The Children's Hospital of Philadelphia, Philadelphia, PA.
David I
DI
Chu
Division of Urology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Dana A
DA
Weiss
Division of Urology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Arun K
AK
Srinivasan
Division of Urology, The Children's Hospital of Philadelphia, Philadelphia, PA.
Douglas A
DA
Canning
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: kalishj@email.chop.edu.
Jennifer M
JM
Kalish
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D002675:Child, Preschool; D058674:Chromosome Duplication; D002880:Chromosomes, Human, Pair 11; D006801:Humans; D007223:Infant; D008297:Male