Clinical manifestation of a severe neonatal progeroid syndrome

Clin Genet. 1997 Mar;51(3):200-4. doi: 10.1111/j.1399-0004.1997.tb02453.x.

Abstract

A girl with a progeroid appearance, with prominent occiput, blepharophimosis, cataract, arthrogryposis of the upper limbs and severe pulmonary stenosis is described. She died aged less than 6 months. An older sister was born 3 years before with the same appearance and underwent the same fatal evolution. The clinical appearance of this reported patient is compared to the previously published cases with severe neonatal progeroid syndromes.

Publication types

  • Case Reports

MeSH terms

  • Cutis Laxa / pathology
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Progeria / complications
  • Progeria / genetics
  • Progeria / pathology*
  • Syndrome