Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom
Article first published online: 4 JAN 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 108, Issue 1, pages 45–50, 15 February 2002
How to Cite
Steiner, R. D., Dignan, P. St. J., Hopkin, R. J., Kozielski, R. and Bove, K. E. (2002), Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom. Am. J. Med. Genet., 108: 45–50. doi: 10.1002/ajmg.10167
- Issue published online: 16 JAN 2002
- Article first published online: 4 JAN 2002
- Manuscript Accepted: 4 OCT 2001
- Manuscript Received: 4 JAN 2001
- congenital defects;
- developmental field;
- Fryns syndrome
Two sporadic cases of eventration of the diaphragm are reported; one had bilateral colobomatous microphthalmia and the other had anophthalmia. Absence of polydactyly and presence of eventration rather than diaphragmatic hernia helped to exclude Fryns syndrome. These cases together with published cases with overlapping features support the thesis that this combination of defects is nonrandom and of heterogeneous cause. Some cases are due to a pleiotropic gene defect. In other cases, a polytypic developmental field involving an unknown developmental cascade common to the eye and diaphragm may provide a basis for the combination. © 2002 Wiley-Liss, Inc.