A new mental retardation syndrome with agenesis of the corpus callosum and unusual bone changes is reported from the Departments of Radiology and Neurology, Royal Alexandra Hospital for Children, Camperdown, Sydney, NSW, Australia. At 11 months of age, the boy was functioning at a 5 month level, and his head circumference was at the 98th centile. His face was triangular in shape, with a broad frontal region. There was mild hypotonia, and deep tendon reflexes were exaggerated. Skeletal abnormalities included multiple Wormian bones, thin ribs, small iliac bodies, and retarded bone age. [1]
COMMENT. Macrocephaly and Polydactyly, in Schinzel syndrome, and microcephaly and camptodactyly, in da-Silva syndrome, are additional examples of skeletal abnormalities associated with corpus callosum agenesis or hypoplasia. (see Progress in Pediatric Neurology, Millichap JG, Ed, Chicago, PNB Publishers, 1991, pp 310-312).