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. 1970 Dec;33(6):844–850. doi: 10.1136/jnnp.33.6.844

Syndrome of absent abdominal muscles: two cases with microcephaly, polymicrogyria, and cerebellar malformations

Reid R Heffner 1,1
PMCID: PMC493602  PMID: 4250700

Abstract

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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