Genetic syndromes mimic congenital infections

J Pediatr. 2005 May;146(5):701-5. doi: 10.1016/j.jpeds.2005.01.033.


Genetic syndromes that mimic congenital infection are important to recognize because of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clinical features suggestive of intrauterine infection but with negative serologic investigations. Our observations suggest that Aicardi-Goutieres syndrome (AGS) and pseudo-TORCH syndrome likely represent the same disorder.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Phenotype
  • Syndrome