Nasal dimple as part of the 22q11.2 deletion syndrome

Am J Med Genet. 1997 Mar 31;69(3):290-2.

Abstract

The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion syndrome, and should not be confused with the more severe nasal abnormalities seen in frontonasal dysplasia.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • Male
  • Nose / abnormalities*
  • Phenotype
  • Syndrome