Okihiro Syndrome

Abstract

Okihiro Syndrome is the name given to an autosomal dominant, inherited congenital syndrome, characterised by Duane anomaly (a limitation in ocular mobility) and radial ray defects, ranging from thenar hypoplasia to complete absence of the thumb and radial dysplasia. Other associated anomalies include urino-genital and other skeletal spinal abnormalities and deafness. This paper illustrates the syndrome in two generations, i.e. father and two of his offspring and describes the therapeutic management of the radial dysplasia.