Two siblings with an unusual nasal malformation: further instances of craniorhiny?

Am J Med Genet A. 2007 Dec 15;143A(24):3290-4. doi: 10.1002/ajmg.a.32026.

Abstract

We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Cleft Lip / complications
  • Congenital Abnormalities / diagnosis*
  • Craniosynostoses / diagnosis
  • Craniosynostoses / genetics
  • Diagnosis, Differential
  • Facies
  • Family Health
  • Female
  • Genes, Recessive
  • Humans
  • Hypertelorism / diagnosis
  • Male
  • Nose / abnormalities*
  • Siblings