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Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings

โœ Scribed by A. Cao; C. Cianchetti; E. Signorini; M. Loi; G. Sanna; S. De Virgiliis


Book ID
119838529
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
464 KB
Volume
12
Category
Article
ISSN
0009-9163

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Corpus callosum agenesis, severe mental
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We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent intractable epilepsy, spastic/dyskinetic quadriparesis, severe limb contractures, and scoliosis. This complex, newly described phenotype, is due to a novel non-conservative m