hrp0098p3-163 | Growth and Syndromes | ESPE2024

A case of PIK3CA-related overgrowth syndrome with hypertrophy of the right index finger and upper limb

Mori Jun , Iwata Kohei , Watanabe Yo , Yamada Yuki , Higuchi Shinji

Introduction: PIK3CA-related overgrowth spectrum (PROS) encompasses a group of disorders caused by mutations in the PIK3CA gene, leading to abnormal growth and development of various tissues in the body. We report a case of PROS with hypertrophy of the right index finger and upper limbCase: The case is a 19-month-old boy. He was born at 38 weeks of gestation, weighing 2,554g and measuring 47.2cm in length, with a head ci...