Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings

Am J Med Genet. 1988 Sep;31(1):159-68. doi: 10.1002/ajmg.1320310119.

Abstract

Detailed postmortem findings from 11 cases of probable Fraser (cryptophthalmos-syndactyly) syndrome are reported. Eight cases presented as neonatal deaths, one as a stillbirth, and there were 2 midtrimester fetuses. All of the cases had ocular, otic, digital, laryngeal, and renal abnormalities. Details of the pregnancies and sibship data are also reported. The possibility of prenatal diagnosis for this syndrome is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Spontaneous
  • Delivery, Obstetric
  • Eye Abnormalities*
  • Female
  • Fetal Death
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Syndactyly / embryology
  • Syndactyly / genetics
  • Syndactyly / pathology*
  • Syndrome