Craniotelencephalic Dysplasia

Daum et al. (1958) described a 6-month-old child with frontal bone protrusion, encephalocele, craniosynostosis, and developmental retardation. Jabbour and Taybi (1964) reported a similarly affected child whose condition they designated craniotelencephalic dysplasia. Hughes et al. (1983) reported 2 affected sisters and described the autopsy findings in 1. These included septooptic dysplasia (optic nerve hypoplasia and absent septum pellucidum), agenesis of the corpus callosum, lissencephaly, and arhinencephaly. In 1 sib, the forehead had the appearance of a frontal encephalocele.

See septooptic dysplasia (182230).