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

✍ Scribed by Shah, Deepak; Jones, Robert; Porter, Helen; Turnpenny, Peter

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 409 KB
Volume: 70
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970516)70:2<171::aid-ajmg13>3.0.co;2-g

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✦ Synopsis

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.

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