Bilateral microphthalmia, esophageal atresia, and cryptorchidism: The anophthalmia‐esophageal‐genital syndrome
D Shah, R Jones, H Porter… - American journal of …, 1997 - Wiley Online Library
D Shah, R Jones, H Porter, P Turnpenny
American journal of medical genetics, 1997•Wiley Online LibraryWe 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.
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.
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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