Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27)

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1606-8. doi: 10.1016/j.ijporl.2013.06.027. Epub 2013 Jul 29.

Abstract

The congenital vomer defect (CVD) is a rare and still partially unknown condition. Only few cases have been reported in the international literature and the large majority of them appeared to be isolated. We report a case of CVD detected in a 7-year-old girl affected by ectodermal dysplasia clefting syndrome caused by a mutation of the TP63 gene.

Keywords: Clefting; EEC; Nasal septum; Ossification; P63 gene; Vomeral bone.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Child
  • Cleft Lip / genetics*
  • Cleft Lip / surgery
  • Cleft Palate / genetics*
  • Cleft Palate / surgery
  • Ectodermal Dysplasia / genetics*
  • Female
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging / methods
  • Mutation
  • Nasal Septum / abnormalities
  • Rare Diseases
  • Syndrome
  • Transcription Factors / genetics*
  • Tumor Suppressor Proteins / genetics*
  • Vomer / abnormalities*

Substances

  • TP63 protein, human
  • Transcription Factors
  • Tumor Suppressor Proteins