Radial Aplasia, X-Linked

Gibson et al. (1988) described a male fetus with bilateral radial aplasia, hydrocephalus, and penile hypospadias who had a similarly affected maternal uncle. The uncle, who died soon after birth, also had imperforate anus. The legs were normal in both. Gibson et al. (1993) published a full report on these patients and suggested that the complex is a distinct X-linked syndrome of absent radii and anogenital anomalies.