ESPE Abstracts

Raine Syndrome (RS) caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. RS usually lethal during neonatal period due to severe respiratory distress. However, a non-lethal RS form existed with very limited description in literature.Objective: To increase awareness about non-lethal RS form.Case Description:</strong...