ENT manifestations of Fraser syndrome

J Laryngol Otol. 1992 Jan;106(1):1-4. doi: 10.1017/s0022215100118444.


Fraser Syndrome is a rare autosomal recessive disorder (Gupta and Saxena, 1962; Smith, 1982). The most consistent feature is cryptophthalmos (hidden eye), but frequently abnormalities of the ears (meatal stenosis, dysplastic pinna), nose (hypoplastic notched nares, choanal stenosis or atresia), and larynx (glottic web, subglottic stenosis), as well as numerous other anomalies are encountered. We present four cases that have been treated at the Hospital for Sick Children in the last ten years, and describe the various ENT anomalies characteristic of this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Child, Preschool
  • Ear, External / abnormalities*
  • Eyelids / abnormalities*
  • Female
  • Humans
  • Larynx / abnormalities*
  • Male
  • Nose / abnormalities*
  • Phenotype
  • Syndrome