[Expressivity of familial forms of Fraser syndrome]

J Genet Hum. 1989 Jun;37(2):119-26.
[Article in French]


Two new cases of the Fraser syndrome are presented. The literature review indicates that the clinical expression inside families is very constant with regard to cryptophthalmos, syndactyly or internal malformations. Particularly the fatal issue of severe forms is regularly constant in each of the families recently reported with a detailed autopsy. These conclusion would change the genetic counseling. A lethal form of the disease would recur in the same manner and could be detected by exhibiting the genito-urinary malformations at ultrasonography or even the syndactyly at foetoscopy.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Eyelids / abnormalities*
  • Female
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Prognosis
  • Syndactyly / genetics*
  • Syndrome