A review of the urologic manifestations of Beckwith-Wiedemann syndrome

Journal of Pediatric Urology
Charlene A WongAndrew Kirsch

Abstract

Beckwith-Wiedemann syndrome (BWS) is a constellation of congenital anomalies that classically presents with macroglossia, abdominal wall defects and gigantism. Although renal and adrenal pathology are the most commonly associated urologic findings of BWS, we report a case of a girl with BWS and symptomatic clitoromegaly, recurrent urinary tract infections and vesicoureteral reflux, followed by a review of the literature regarding urologic manifestations of BWS. A comprehensive review of the literature for renal and non-renal urologic manifestations of BWS was conducted using a computer-based (PubMed) search. The reported renal and non-renal urologic findings are summarized. In addition to well-described renal manifestations, a variety of non-renal urologic findings have been reported in patients with BWS. Healthcare providers should carefully evaluate both patients and their family members for urologic manifestations of BWS. Early diagnosis and thorough evaluation allows for potential improved management and prognosis of BWS urologic sequelae, including tumors, cryptorchidism and urinary tract abnormalities.

References

Dec 1, 1991·The Australian and New Zealand Journal of Surgery·S Crankson, S Ahmed
Aug 1, 1990·American Journal of Medical Genetics·D ChitayatJ G Hall
Jun 1, 1988·European Journal of Pediatrics·W EngströmP Schofield
Dec 1, 1967·Journal of Pediatric Surgery·I M Irving
Jul 1, 1993·Pediatric Cardiology·J ShiraniD A Vitullo
Sep 2, 1998·AJR. American Journal of Roentgenology·P L ChoykeM R DeBaun
May 12, 2005·American Journal of Medical Genetics. Part a·P RumpA J van Essen
Jul 13, 2005·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Rosanna WeksbergAdam C Smith
Aug 31, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sanaa ChoufaniRosanna Weksberg

❮ Previous
Next ❯

Citations

Oct 22, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Alessandro MussaGiovanni Battista Ferrero
Nov 7, 2015·Gynécologie, obstétrique & fertilité·C Le VaillantA-S Riteau
Aug 12, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Manuel NistalMiguel Reyes-Múgica
May 29, 2018·Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation·Maria L IezziAlberto Verrotti
May 13, 2017·Neonatal Network : NN·Matthew ZammitJean Calleja-Agius
Aug 31, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kelly A DuffyJennifer M Kalish
Jul 12, 2019·Italian Journal of Pediatrics·Maria Chiara PellegrinEgidio Barbi

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiomegaly

Cardiomegaly, known as an enlarged heart, is a multifactorial disease with different pathophysiological mechanisms. Hypertension, pregnancy, exercise-induced and idiopathic causes are some mechanisms of cardiomegaly. Discover the latest research of cardiomegaly here.

Bladder Carcinoma In Situ

Bladder Carcinoma In Situ is a superficial bladder cancer that occurs on the surface layer of the bladder. Discover the latest research on this precancerous condition in this feed.

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.