Pre-auricular tags and associated anomalies: considerations for genetic counseling

Genet Couns. 2003;14(3):321-4.

Abstract

Pre-auricular tags are relatively common isolated congenital anomalies with a prevalence of about 5 per 1000 live births. Several associations with congenital anomalies have been reported and the opportunity of systematic ultrasonography examinations in these patients were debated in the literature. We conducted a retrospective epidemiological study on 95 affected newborns, to evaluate whether infants with pre-auricular tags may be at risk for associated anomalies. Our results focus the attention on the increased risk of congenital urinary tract and heart malformations in newborns with isolated pre-auricular tags. Therefore, we recommend that a carefully genetic clinical examination to evaluated dysmorphic features evocative of a specific pattern or syndrome and an urinary and cardiac ultrasonography should be performed in infants with isolated pre-auricular tags.

MeSH terms

  • Abnormalities, Multiple*
  • Craniosynostoses / genetics*
  • Ear / abnormalities*
  • Female
  • Genetic Counseling*
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Male
  • Syndrome