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Syndrome of absent abdominal muscles: two cases with microcephaly, polymicrogyria, and cerebellar malformations
  1. Reid R. Heffner1
  1. Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, U.S.A.


    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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