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Bilateral colpocephaly (MRI)

Axial MRI in 6-year-old girl with severe congenital microcephaly shows bilateral colpocephaly (corpus callosum present). Genetic diagnosis: primordial microcephalic dwarfism with confirmed COL6A3 mutation. (Contributed by Dr. Laura Flores-Sarnat.)

Related Media

Associated Disorders

  • 6q terminal deletions
  • Agenesis of the corpus callosum
  • Aicardi syndrome
  • Chudley-McCullough syndrome
  • Deletion of chromosome 21
  • Hemimegalencephaly
  • Linear nevus sebaceous syndrome
  • Lissencephaly type 1
  • Marden-Walker syndrome
  • Norman-Roberts syndrome
  • Perinatal hypoxic-ischemic encephalopathy
  • Shapiro syndrome
  • Tourette syndrome
  • Zellweger syndrome
  • periventricular leukomalacia