TY - JOUR
AR - SCR-2022-8-101
TI - Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome
AU - Andrew, Cowan
AU - Arthi, Hannallah
AU - Thalia, Bajakian
AU - Zoe, Baker
AU - Christopher, Gayer
AU - Shengmei, Zhou
AU - Andy, Chang
AU - Yuding, Wang
AU - Paul, Kokorowski
JO - Surgical Case Reports
PY - 2022
DA - Thu 04, Aug 2022
SN - 2613-5965
DO - http://dx.doi.org/10.31487/j.SCR.2022.08.01
UR - https://www.sciencerepository.org/bilateral-wilms-tumor-in-a_SCR-2022-8-101 
KW - Simpson-Golabi-Behmel syndrome, Wilms’ tumor, X-linked recessive
AB - 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.