Fraser syndrome

J Postgrad Med. Oct-Dec 1993;39(4):228-30.

Abstract

Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Amenorrhea / etiology
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / epidemiology
  • Eye Abnormalities / genetics
  • Eye Abnormalities / pathology*
  • Face / abnormalities*
  • Female
  • Genitalia, Female / abnormalities*
  • Humans
  • Skull / abnormalities*
  • Syndactyly / diagnosis
  • Syndactyly / epidemiology
  • Syndactyly / genetics
  • Syndactyly / pathology*
  • Syndrome