Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome

Am J Med Genet. 1995 May 8;56(4):351-8. doi: 10.1002/ajmg.1320560403.

Abstract

We report on the prenatal ultrasonographic diagnosis of Walker-Warburg syndrome based on cerebral and ocular findings. The ultrasound study done at 37 weeks gestation documented hydrocephalus and retinal nonattachment consistent with this syndrome. The ability to detect retinal nonattachment prenatally may have implications for the prenatal diagnosis of other conditions which have early retinal nonattachment as one of their findings. However, it is uncertain how early in pregnancy this defect can be detected.

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / embryology
  • Female
  • Humans
  • Hydrocephalus / diagnostic imaging*
  • Infant, Newborn
  • Pregnancy
  • Prenatal Diagnosis*
  • Retinal Detachment / congenital
  • Retinal Detachment / diagnostic imaging*
  • Retinal Detachment / embryology
  • Syndrome
  • Ultrasonography