Association of anophthalmia and esophageal atresia

D. Sandler, A. Mancuso, T. Becker, R. Zori, J. Hellrung, J. Silverstein, V. Burton, A. Hamosh, C. Williams

Research output: Contribution to journalArticlepeer-review


We report on a boy and a girl with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities; one had ectopic tissue in the hypothalamic region, and the other had generalized ventriculomegaly associated with atrophy. Two other cases, both males, have been reported with anophthalmia and esophageal atresia as their only malformations. These 4 cases are reviewed in light of recent advances in the understanding of ocular embryogenesis and of the midbrain as a developmental field. Concurrence of these defects appears to be nonrandom.

Original languageEnglish (US)
Pages (from-to)484-491
Number of pages8
JournalAmerican journal of medical genetics
Issue number4
StatePublished - Dec 12 1995
Externally publishedYes


  • anophthalmia
  • esophageal atresia
  • hypothalamus
  • septooptic dysplasia
  • tracheoesophageal fistula

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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