Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn

Clin Genet. 1990 Feb;37(2):84-96. doi: 10.1111/j.1399-0004.1990.tb03484.x.

Abstract

Clinical and autopsy findings in two fetuses and one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal-recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Adult
  • Anophthalmos / diagnosis*
  • Anophthalmos / genetics
  • Anus, Imperforate / diagnosis
  • Cleft Lip / diagnosis
  • Cleft Palate / diagnosis
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Kidney / abnormalities
  • Male
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndactyly / diagnosis*
  • Syndactyly / genetics
  • Syndrome
  • Ultrasonography