hrp0097p1-272 | Fat, Metabolism and Obesity | ESPE2023

Various clinical manifestations found in 3 cases with Progeria syndrome

Igarashi Mizuho , Ota Tomoko , Doi Hibiki , Kashima Takemoto , Kosaki Rika , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Background: Progeria syndromes caused by LMNA gene variants consist of Hutchinson-Gilford progeria syndrome (HGPS) and Atypical progeroid syndrome (APS). Various phenotypes of APS are previously reported, whereas HGPS shows relatively unique phenotype.Objective: To investigate the spectrum of clinical manifestations in three cases of Progeria syndrome.Methods: The history ...