Recognizable syndromes in the newborn period

Clin Perinatol. 2015 Jun;42(2):263-80, viii. doi: 10.1016/j.clp.2015.02.003. Epub 2015 Apr 7.


Making the diagnosis of genetic syndromes in the neonatal period can be challenging, as limited information concerning growth and development is available. The pattern of dysmorphic features and malformations is, therefore, correspondingly more important in syndrome recognition. The authors provide specific examples of the differences in the presentation for selected syndromes between the newborn period and later childhood. The purpose is to describe the variation in presentation that can occur with chronologic age and to aid in the early diagnosis of these conditions.

Keywords: Birth defects; Dysmorphology; Newborn period; Syndrome recognition.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Genetic Testing / methods*
  • Humans
  • Infant, Newborn
  • Syndrome