BILATERAL MICROPHTHALMIA, ESOPHAGEAL ATRESIA, AND CRYPTORCHIDISM - THE ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME

Authors
SHAH D JONES R PORTER H TURNPENNY P
Citation
D. Shah et al., BILATERAL MICROPHTHALMIA, ESOPHAGEAL ATRESIA, AND CRYPTORCHIDISM - THE ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME, American journal of medical genetics, 70(2), 1997, pp. 171-173
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
70
Issue
2
Year of publication
1997
Pages
171 - 173
Database
ISI
SICI code
0148-7299(1997)70:2<171:BMEAAC>2.0.ZU;2-0
Abstract
We report on a male infant with bilateral microphthalmia, esophageal a tresia, and cryptorchidism. To our knowledge only 4 cases with a simil ar combination of congenital abnormalities have been previously report ed, and it is likely that this represents a distinct entity. We sugges t the name ''anophthalmia-esophageal-genital-syndrome.'' (C) 1997 Wile y-Liss, Inc.