Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome

Am J Med Genet. 1997 May 16;70(2):171-3. doi: 10.1002/(sici)1096-8628(19970516)70:2<171::aid-ajmg13>;2-g.


We report on a male infant with bilateral microphthalmia, esophageal atresia, and cryptorchidism. To our knowledge only 4 cases with a similar combination of congenital abnormalities have been previously reported, and it is likely that this represents a distinct entity. We suggest the name "anophthalmia-esophageal-genital-syndrome."

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anophthalmos*
  • Cryptorchidism*
  • Esophageal Atresia*
  • Humans
  • Infant, Newborn
  • Male
  • Phenotype
  • Syndrome