Abstract
In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published to date.
MeSH terms
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Agenesis of Corpus Callosum*
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Brain Diseases / genetics
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Cleft Lip / genetics
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Cleft Palate / complications
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Cleft Palate / genetics*
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Consanguinity
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Corpus Callosum / pathology
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Electroencephalography
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Exophthalmos / genetics
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Humans
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Infant
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Intellectual Disability / genetics
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Karyotyping
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Male
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Microcephaly / complications
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Microcephaly / genetics*
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Myocardium / pathology
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Psychomotor Disorders / genetics*
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Spasms, Infantile / genetics*