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A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development

Authors

  • Aditi I. Dagli,

    Corresponding author
    1. Raymond C. Philip Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida
    • Division of Genetics, Box 100296, Gainesville, FL 32610.
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  • Heather J. Stalker,

    1. Raymond C. Philip Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida
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  • Charles A. Williams

    1. Raymond C. Philip Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida
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  • How to cite this article: Dagli AI, Stalker HJ, Williams CA. 2007. A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development. Am J Med Genet Part A 146A:204–207.

Abstract

The syndrome of megalencephaly, mega corpus callosum and complete lack of motor development (MCC; OMIM 603387) is an apparently rare condition since only three sporadic cases have been reported [Gohlich-Ratmann et al. (1998); Am J Med Genet 79:161–167]. We describe an additional case that was not diagnosed until age 15 months. The MRI showed generalized, severe enlargement of the corpus callosum and thickening of the cortex. The cause for the MCC syndrome is unknown and both autosomal recessive and spontaneous dominant genetic mechanisms are possibilities. © 2007 Wiley-Liss, Inc.

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