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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Congenital ocular motor apraxia.

Nine patients with congenital ocular motor apraxia (COMA) are presented and the natural history of this condition is considered. Two presented in early infancy, before the onset of the head thrust, and the means of establishing the diagnosis at this age are discussed. All exhibited motor delay in infancy which lessened, but did not completely resolve, with time. Conceptual delay, particularly with speech, affected all in early childhood. Three had agenesis of the corpus callosum and 2 cerebellar abnormalities. The autopsy of one infant showed cerebellar cortical dysplasia. The pathogenesis of COMA remains unknown and it is possible that agenesis of the corpus callosum and cerebellar hypoplasia are markers indicative of early CNS maldevelopment and not an integral part of the mechanism of COMA.[1]

References

  1. Congenital ocular motor apraxia. Fielder, A.R., Gresty, M.A., Dodd, K.L., Mellor, D.H., Levene, M.I. Transactions of the ophthalmological societies of the United Kingdom. (1986) [Pubmed]
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