Journal of pediatric ophthalmology and strabismus · 2001
Characteristics of Okihiro syndrome.
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Chun B B, Mazzoli R A, Raymond W R
Аннотация
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.
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.