ESPE Abstracts

Introduction: Wiedemann-Rautenstrauch syndrome (WRS). or neonatal progeroid syndrome, is an orphan hereditary disease associated predominantly with bi-allelic mutations in the POLR3A, POLR3B, and POLR3GL genes and characterized by congenital lipodystrophy, progeroid facial features, and premature aging. Unlike Hutchinson-Gilford progeria, the clinical features of the syndrome are evident at birth. The prevalence of the disease is unknown; 19 proven clinical ca...