CHILD WITH MILLER-DIEKER SYNDROME SURVIVING MORE THAN A DECADE: RARE INSTANCE IN LITERATURE
Miller Dieker Syndrome (MDS) is characterized by abnormal brain development and lissencephaly. As a result, babies have severe intellectual disability, developmental delay, multiple seizures and hypotonia. Characteristic facial features and mental retardation is indicative of a karyotypic evaluation. Microdeletion of chromosome 17p13.3 confirms the diagnosis. Management includes genetic counselling, frequent medical check-up, palliative treatment with physiotherapy and seizure control.
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