The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.
We report on a child with Duane anomaly, deafness, cervical spine, and radial ray abnormalities. A sister of the proposita had hemifacial microsomia, cervical abnormalities, and hypoplasia of the thenar eminence. Four relatives had hypoplasia of the thenar eminence. A fifth had preaxial polydactyly. Duane anomaly was present in two sixth-degree relatives. This appears to be an autosomal dominant trait. Singly or in combination the abnormalities seen in this family have all been described in association with Duane anomaly. Their occurrence in the same family suggests that they are not independent entities but represent pleiotropic effects of the same gene.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002574:Cervical Vertebrae / Q000002:abnormalities; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics*; D004370:Duane Retraction Syndrome / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D009886:Ophthalmoplegia / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome