ENT abnormalities associated with Fraser syndrome: case report and literature review

J Otolaryngol. 1988 Aug;17(5):233-6.

Abstract

Fraser syndrome is an uncommon genetic disorder characterized by multiple congenital abnormalities. Newborns afflicted with this syndrome have abnormalities of the eyes, ears, nose, larynx, palate, extremities and urogenital system. A review of the literature shows a deficiency in the description of the ENT abnormalities. Most articles have appeared in the ophthalmologic literature with emphasis on the obvious ocular abnormalities. In this paper we will describe in detail, the ear, nose and throat abnormalities in a two-year-old child with Fraser syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Ear / abnormalities*
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Nose / abnormalities*
  • Pharynx / abnormalities*