The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications

Int J Pediatr Otorhinolaryngol. 1998 Oct 2;45(2):133-41. doi: 10.1016/s0165-5876(98)00067-6.

Abstract

The velo-cardio-facial syndrome (VCFS), due to a deletion in chromosome 22 on its long arm (22q11), is a leading cause of velopharyngeal dysfunction and cleft palate. With the recent finding of a deletion on chromosome 22q11 in these patients with velopharyngeal dysfunction, a routine test is available making the diagnosis of VCFS much more frequent than previously thought.

Publication types

  • Review

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Cleft Palate / genetics*
  • DiGeorge Syndrome / genetics
  • Female
  • Hearing Loss, Conductive / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Syndrome
  • Velopharyngeal Insufficiency / genetics*