title: Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs.
abstract: The Wiedemann-Rautenstrauch syndrome (WRS) (OMIM 264090) is a rare progeroid entity. WRS patients are characterized by premature aging present at birth including pseudohydrocephalus, cranio-facial disproportion, reduced subcutaneous fat, thin skin, rigid and thick joints, and neonatal teeth in some cases. Here we describe three sibs with WRS from unaffected parents and without consanguinity. Our findings support autosomal recessive inheritance in WRS and support the possibility of homozygocity mapping as a good approach to find the causative gene.
authors.affiliation: Grupo de Neurociencias and Programa de Maestría en Neurociencias, Universidad Nacional de Colombia, Bogotá, Colombia.
authors.forename: Gonzalo
authors.initials: G
authors.lastname: Arboleda
authors.forename: Luis Carlos
authors.initials: LC
authors.lastname: Morales
authors.forename: Luis
authors.initials: L
authors.lastname: Quintero
authors.forename: Humberto
authors.initials: H
authors.lastname: Arboleda
mesh_terms: D017809:Fatal Outcome; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011371:Progeria / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D035781:Siblings