Nikolas Blevins, MD

Publication Details

  • Sensorineural hearing loss, early greying, and essential tremor: A new hereditary syndrome? OTOLARYNGOLOGY-HEAD AND NECK SURGERY Karmody, C. S., Blevins, N. H., Lalwani, A. K. 2005; 133 (1): 94-99

    Abstract:

    To present a syndrome composed of sensorineural hearing loss, early greying of scalp hair, and adult-onset essential tremor.Retrospective chart review.Tertiary care academic hospital.Three individuals were seen with this triad, each with family members with similar features. Our patients are a 65-year-old man and two women in their 40s. Two noted hearing loss in adulthood, one as a child. All had complete greying in their 20s. The women developed essential tremor in their 20s, and the man in his 50s. All individuals have blue eyes without heterochromia. Additional evaluation failed to further categorize these patients. Each has two or more immediate family members with a combination of these findings. Molecular genetic testing suggests this is not a variant of Waardenburg syndrome.We believe this represents a previously unreported hereditary syndrome.This new syndrome should be considered in the context of other syndromes involving audition, pigmentation, and movement.

    View details for DOI 10.1016/j.otohns.2005.03.017

    View details for Web of Science ID 000230406600018

    View details for PubMedID 16025060

Stanford Medicine Resources:

Footer Links: