Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients

H Arboleda; L Quintero; E Yunis

doi:10.1136/jmg.34.5.433

Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients

J Med Genet. 1997 May;34(5):433-7. doi: 10.1136/jmg.34.5.433.

Authors

H Arboleda¹, L Quintero, E Yunis

Affiliation

¹ Instituto de Genética, Universidad Nacional de Colombia, Santafé de Bogotá, Colombia.

Abstract

Wiedemann-Rautenstrauch (WR) syndrome is known as a neonatal progeroid syndrome, with only few published case reports. We describe three additional patients, two of them sibs, showing the clinical features of WR syndrome. Skeletal abnormalities are reported and assays of hormones and lipids are presented in one patient. Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / pathology
Bone Development / physiology
Craniofacial Abnormalities / diagnostic imaging
Craniofacial Abnormalities / pathology
Female
Fetal Growth Retardation / diagnostic imaging
Fetal Growth Retardation / genetics
Fetal Growth Retardation / pathology*
Hormones / metabolism
Humans
Infant
Infant, Newborn
Lipid Metabolism
Male
Nuclear Family
Pedigree
Progeria / diagnostic imaging
Progeria / pathology*
Radiography
Syndrome

Substances

Hormones