Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant

Clin Case Rep. 2024 Jun 14;12(6):e9082. doi: 10.1002/ccr3.9082. eCollection 2024 Jun.

Abstract

We report a patient with nonimmune fetal hydrops and multiple pathologic fractures. RNA analysis revealed a novel PIEZO1 variant. This report is the first to elucidate PIEZO1's role as a critical regulator of bone mass and strength.

Keywords: chylothorax, congenital; fractures, spontaneous; lymphedema; mechanoreceptors; military medicine; radionuclide imaging.

Publication types

  • Case Reports