Choanal atresia in a patient with the deletion (9p) syndrome

Am J Med Genet. 1994 Jan 1;49(1):88-90. doi: 10.1002/ajmg.1320490116.

Abstract

We report on a child with choanal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with del(9p). Choanal atresia may be part of the spectrum of malformations in the deletion (9p) syndrome and its presence should prompt a search for this particular deletion as part of the differential diagnosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Blepharoptosis / genetics
  • Child, Preschool
  • Choanal Atresia / genetics*
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 9*
  • Female
  • Frontal Bone / abnormalities*
  • Humans
  • Intellectual Disability / genetics*