Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Prenat Diagn. 2002 Aug;22(8):692-6. doi: 10.1002/pd.381.


Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Denys-Drash Syndrome / diagnosis*
  • Denys-Drash Syndrome / genetics*
  • Eyelids / abnormalities
  • Fatal Outcome
  • Female
  • Genitalia, Female / abnormalities
  • Gestational Age
  • Humans
  • Kidney / abnormalities
  • Male
  • Oligohydramnios / diagnostic imaging
  • Pregnancy
  • Syndactyly
  • Ultrasonography, Prenatal*
  • Ureter / abnormalities

Associated data

  • OMIM/219000