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CEREBRAL GIGANTISM

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Sotos syndrome, Sotos sequence, Neve sequence, Macrosomia-mental retardation syndrome, Mental retardation-overgrowth sequence
 

Investigations

  • It is diagnosed by clinical findings.
  • Genetic Testing: Mutations in the gene NSD1 are confirmatory.
  • CT and MRI of the Brain do not show definite changes except slight widening of the brain’s ventricles.
Diagnosis Treatment
 
 
 
Consult Treating Specialty
 
 
 
 
                                     
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