Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder due to mutations in the EIF2AK3 gene. It is characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, liver impairment, neutropenia and renal dysfunction. Liver is the most commonly affected organ and liver failure is the commonest cause of death in this syndrome. The EIF2AK3 gene encodes a transmembrane pro...

1. Perú, Ministerio de Salud. SERUMS: Servicio Rural Urbano Marginal de Salud [Internet]. Lima: Ministerio de Salud; c2008 [citado el 25 de abril del 2013]. Disponible en: http://www.minsa.gob.pe/portal/servicios/serums/ info_serums.asp 2. Huamaní C, Gutiérrez C, Mezones-Holguín E. Correlación y concordancia entre el examen nacional de medicina y el promedio ponderado universitario: análisis de...

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. In the present study, we analyzed the EIF2AK3 gene in a 64 day-old-girl WRS patient and his parents to study the cli...

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes. The majority of reported patients are from consanguineous families. Several mutations with variable expression of the syndrome are reported. Here we descr...

©Jo ur nal of Cli ni cal Re se arch in Pe di at ric En doc ri no logy, Pub lis hed by Ga le nos Pub lis hing. Dear Editor, Wolcott-Rallison syndrome (WRS; Online Mendelian Inheritance in Man 226980) is an autosomal recessively inherited disorder characterized by neonatal insulin-dependent diabetes mellitus, skeletal dysplasia (epiphyseal dysplasia), acute hepatic and/or renal dysfunction, exocr...

Abdi Ahmed Bonahy, Houssam Sabbah, Ahmed Haiba Med Vadell, Nacer Eddine Med Baba Département Mère et Enfant, Faculté de Médicine de Nouakchott, Mauritanie, Maternité du Centre Hospitalier National (CHN) de Nouakchott, Mauritanie, Service d’Anatomopathologie du Centre Hospitalier National (CHN) de Nouakchott, Mauritanie Corresponding author: Abdi Ahmed Bonahy, Département Mère et Enfant, Faculté...

Gray DB, Hendershot GE. The ICIDH-2: developments for a new era of outcomes research. Arch Phys Med Rehabil 2000;81 Suppl 2:S10-S14. This article reviews the important concepts that led to the development of the International Classification of Impairments, Disabilities, and Handicaps (ICIDH), explicates the International Classification of Functioning and Disability (ICIDH-2), and discusses impl...