Andrew Cowan,Arthi Hannallah,Thalia Bajakian,Zoe Baker,Christopher Gayer,Shengmei Zhou,Andy Chang,Yuding Wang,Paul Kokorowski,
Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome
Surgical Case Reports
2022
2613-5965
http://dx.doi.org/10.31487/j.SCR.2022.08.01
https://www.sciencerepository.org/bilateral-wilms-tumor-in-a_SCR-2022-8-101 
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.Keywords: Simpson-Golabi-Behmel syndrome, Wilms’ tumor, X-linked recessive