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cerebellar vermis hypoplasia

Thursday 28 December 2006

Cerebellar vermis hypoplasia (CVH) is part of many different malformation syndromes, especially Joubert syndrome and Joubert-related cerebello-oculo-renal syndromes.


- hypoplasia and dysplasia of the ponto-mesencephalic isthmus and the superior portion of the cerebellar vermis ("molar tooth" sign on MRI)

- hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation, comprising a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex;

- this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation;

Etiology (Examples)

- cerebello-oculo-renal syndromes

  • Joubert syndromes
  • Arima syndrome
  • Senior-Loken syndrome
  • COACH syndromes

See also

- cerebellar malformations