Ocular coloboma and multiple congenital anomalies: The CHARGE association
- 1 January 1983
- journal article
- research article
- Published by Taylor & Francis in Ophthalmic Paediatrics and Genetics
- Vol. 2 (3) , 189-199
- https://doi.org/10.3109/13816818309007809
Abstract
Among 96 mentally retarded patients with coloboma and/or microphthalmos, 15 had multiple malformations similar to those described with the CHARGE association. The features of this association are surveyed based on the present and previous series of patients. Ascertainment biases are discussed and the similarities between the CHARGE and the VACTERL associations are analysed. It is proposed that the CHARGE and the VACTERL associations may be expressions of the same developmental defect(s). The pathogenesis of these associations might be due to defects of migrations of midline structures.Keywords
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