Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.

PIK3CA-Related Overgrowth Spectrum (PROS) encompass a group of disorders which are mainly characterized by segmental overgrowth of several tissues as well as venous and lymphatic malformations. It is caused by heterozygous, usually somatic mosaic, pathogenic variants in the PIK3CA gene. However, some patients presenting mainly isolated megalencephaly or "Cowden-like" features have been described harboring constitutional mutations of PIK3CA.