title: Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome.
abstract: 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."
authors.affiliation: Department of Child Health, Derriford Hospital, Plymouth, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Shah
authors.forename: R
authors.initials: R
authors.lastname: Jones
authors.forename: H
authors.initials: H
authors.lastname: Porter
authors.forename: P
authors.initials: P
authors.lastname: Turnpenny
mesh_terms: D000853:Anophthalmos; D003456:Cryptorchidism; D004933:Esophageal Atresia; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome