article = {SCR-2022-8-101}
title = {Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome}
journal = {Surgical Case Reports}
year = {2022}
issn = {2613-5965}
doi = {http://dx.doi.org/10.31487/j.SCR.2022.08.01}
url = {https://www.sciencerepository.org/bilateral-wilms-tumor-in-a_SCR-2022-8-101 
author = {Andrew Cowan,Arthi Hannallah,Thalia Bajakian,Zoe Baker,Christopher Gayer,Shengmei Zhou,Andy Chang,Yuding Wang,Paul Kokorowski,}
keywords = {Simpson-Golabi-Behmel syndrome, Wilms’ tumor, X-linked recessive}
abstract ={A 20-month-old female presented with a palpable abdominal mass. Imaging revealed bilateral renal masses and pulmonary nodules. The genetic evaluation identified a de novo 540kb X-chromosome deletion involving GPC3, PHF6, and HPRT1, and highly skewed X-inactivation (100:0). This clinical picture was suggestive of Wilms’ tumor in the setting of Simpson-Golabi-Behmel Syndrome.}