A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome

Cleft Palate Craniofac J. 2010 May;47(3):314-7. doi: 10.1597/09-061.1.


Our report is on a Hispanic boy for whom, shortly after birth, clinical suspicion of 22q11.2 deletion syndrome (22q11.2DS) was raised as a result of his characteristic features, including facial dysmorphisms and hypotonia. The 22q11.2DS was confirmed by fluorescence in situ hybridization (FISH), noting a 22q11.2 deletion. Further evaluation revealed complete congenital absence of the left internal carotid artery and focal pachygyria of the left hemisphere. Multiple cardiac and vascular anomalies have been previously described in 22q11 deletion syndrome, but congenital absence of the internal carotid has not been previously reported in the literature. We present a clinical case report in detail of this unique 22q11.2 deletion syndrome associated finding.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Carotid Artery, Internal / abnormalities*
  • Chromosomes, Human, Pair 22*
  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics
  • Diagnosis, Differential
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male