Characteristics of Okihiro Syndrome

Abstract

PURPOSE: To describe Okihiro syndrome, a syndrome consisting of Duane's syndrome, radial ray anomaly, and sensorineural deafness. METHODS: The incidence of anomalies in 41 individuals from 9 affected families was assessed by literature review and patient examination, and the frequency of the characteristics occurring together was determined. RESULTS: Of all the individuals with at least one of the above characteristics, only 12% had all three characteristics. However, 44% had both Duane's syndrome and radial ray anomaly, whereas sensorineural deafness alone occurred in only 17% of patients. CONCLUSION: Okihiro syndrome is consistent with autosomal dominance with variable penetrance, manifesting primarily with Duane's syndrome and radial ray anomaly, and less frequently, sensorineural deafness.