Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom.

Abstract

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.

• Authors: Robert D Steiner, Peter St J Dignan, Robert J Hopkin, Rafal Kozielski, Kevin E Bove
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 108 Issue 1 Pg. 45-50 (Feb 15 2002) ISSN: 0148-7299 [Print] United States
• PMID: 11857549 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2002 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics, pathology)
• Anophthalmos (genetics, pathology)
• Diaphragmatic Eventration (genetics, pathology)
• Female
• Humans
• Infant, Newborn
• Male
• Microphthalmos (genetics, pathology)
• Syndrome