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