Auditory dysfunction in selected syndromes and patterns of malformations: review and case findings

Hundreds of syndromes may be associated with hearing impairment. Within recent years, there has been heightened research and clinical interest in hearing and syndromes, probably due to both advances in molecular genetics and improved techniques for auditory assessment of infants and young children. An example of the current appreciation for the possible relation between auditory dysfunction and syndromes or patterns of malformations is the inclusion of syndromes as a risk factor for hearing impairment by the 1990 Joint Committee on Infant Hearing. In this paper, we review syndromes and patterns of malformation that are frequently or occasionally associated with hearing impairment. In addition, we illustrate, in case studies, auditory findings that may be associated with three of these syndromes and patterns of malformation: Carpenter syndrome, ichthyosiform dermatosis, and Townes syndrome. We conclude with a discussion of strategies for audiologic assessment and management of infants and children with syndromes and patterns of malformations.