Neonatal progeroid syndrome: more than one disease?

Abstract excerpt

We report on an infant with the neonatal progeroid syndrome whose clinical course and autopsy findings indicate that this may be a heterogeneous phenotype. The infant had intrauterine growth retardation, absence of subcutaneous fat, and a wizened, aged face, all apparently characteristic of the condition, but also had congenital heart defects and urinary reflux not reported in previous cases. An elevated maternal...

Topics

• Abnormalities, Multiple
• Autopsy
• Diagnosis, Differential
• Female
• Humans
• Infant, Newborn
• Phenotype
• Progeria