Two unique cases of the syndrome of absent abdominal muscles with central nervous system involvement are presented. Microcephaly, polymicrogyria, and cerebellar heterotopiae were present in both. In case 1 there was also absence of the corpus callosum and agenesis of the cerebellar vermis. In case 2 a count of anterior horn cells in the spinal cord showed a reduction of approximately 50% in the lower thoracic region. The pertinent literature is briefly discussed. The findings in the nervous system suggest that the syndrome is the result of defective embryogenesis during the first trimester.
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↵1 Present address (including reprint requests): Section of Neuropathology, Department of Pathology, New York Hospital-Cornell Medical Center, 1300 York Avenue, New York City, New York, 10021, U.S.A.
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