Children with corpus callosum anomalies: clinical characteristics and developmental outcomes.

Neurologia i neurochirurgia polska(2023)

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摘要
We have confirmed that callosal defects are frequently accompanied by brain and somatic anomalies. Additional abnormalities were shown to be significantly associated with developmental delay and increased risk of epilepsy. We have highlighted essential clinical features that may provide diagnostic clues to physicians and we have given examples of underlying genetic disorders. We have provided recommendations about extended neuroimaging diagnostics and widespread genetic testing that may impact upon daily clinical practice. Paediatric neurologists may therefore use our findings to help base their decisions regarding this matter.
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关键词
agenesis of corpus callosum,brain malformation,developmental delay,genetic anomalies,somatic anomalies
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