Clinical Variability in Neonatal Progeroid Syndrome

Abstract

The neonatal progeroid syndrome (NPS) was characterized by Wiedemann. NPS differs from the well-known Hutchinson- Gilford progeria, which is not apparent at birth. We report on a Chinese infant girl with a progeroid appearance, multiple anomalies, and severe growth retardation since birth. Thus, our patient has the phenotype of Wiedemann- Reutenstrauch syndrome without intrauterine growth retardation (IUGR ), but with laryngomalacia, camptodactyly, and recurrent skin infection. Our patient brings further evidence of autosomal-recessive inheritance and suggests clinical variability.#1914#