Bilateral microphthalmia,esophageal atresia,and cryptorchidism: The anophthalmia-esophageal-genital syndrome |
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Authors: | Deepak Shah Robert Jones Helen Porter Peter Turnpenny |
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Affiliation: | Department of Child Health, Derriford Hospital, Plymouth, United Kingdom |
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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. |
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Keywords: | microphthalmia esophageal atresia cryptorchidism |
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