Ocular coloboma and multiple congenital anomalies: The CHARGE association

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.

Key Words:

• mental retardation syndromes
• neural crest cells
• midline structural anomalies
• VACTERL association
• congenital heart defects
• malformations of hands and feet
• eye and ear anomalies