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J Med Genet 34:433-437 doi:10.1136/jmg.34.5.433
  • Research Article

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

  1. H Arboleda,
  2. L Quintero,
  3. E Yunis
  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.