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Bilateral microphthalmia,esophageal atresia,and cryptorchidism: The anophthalmia-esophageal-genital syndrome
Authors:Deepak Shah  Robert Jones  Helen Porter  Peter Turnpenny
Affiliation:Department of Child Health, Derriford Hospital, Plymouth, United Kingdom
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.” Am. J. Med. Genet. 70:171–173, 1997. © 1997 Wiley-Liss, Inc.
Keywords:microphthalmia  esophageal atresia  cryptorchidism
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