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Muscle-eye-brain disease in a 7-year-old boy (1)

Near midsagittal T1-weighted image shows diminished gyral markings (cortical dysplasia) over frontal parts, hypoplasia of ventral pons, and hypoplasia of cerebellar vermis. (Contributed by Dr. Peter Barth.)

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Associated Disorders

  • Agyria
  • Brain malformation
  • Buphthalmos
  • Cataract
  • Cerebellar malformation
  • Congenital muscular dystrophy
  • Corneal opacity
  • Dandy-Walker syndrome
  • Encephalocele
  • Glaucoma
  • Hydrocephalus
  • Lissencephaly
  • Microphthalmos
  • Optic nerve atrophy
  • Retinal detachment
  • Retinal dysplasia