Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome

Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome

Author Info

Corresponding Author
Zoe Baker
Division of Urology, Children’s Hospital Los Angeles, Los Angeles, California, USA

A B S T R A C T

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.

Article Info

Article Type
Case Report
Publication history
Received: Wed 06, Jul 2022
Accepted: Thu 21, Jul 2022
Published: Thu 04, Aug 2022
Copyright
© 2021 Zoe Baker. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.SCR.2022.08.01