Table 3

Neuroimaging features in subjects with CC2D2A-related JS

FeatureCC2D2APoretti 2011 JS35Poretti 2011 OFD35
Supratentorial findings
 Ventriculomegaly13/174/712/4
 Agenesis of the corpus callosum1/131/710/4
 Dysgenesis of the corpus callosum6/135/710/4
 Polymicrogyria3/12*1/713/4
 Periventricular nodular heterotopias2/132/711/4
 Transmantle heterotopias1/130/710/4
 White matter increased T2/FLAIR signal3/12NDND
Infratentorial findings
 Asymmetrical cerebral peduncles2/1310/712/4
 Occipital cephalocele1/138/711/4
 Retrocerebellar fluid collection2/1314/713/4
 Brainstem and midbrain heterotopias3/133/710/4
 Foramen magnum cephalocele2/135/711/4
 Prominence at cervicomedullary junction2/132/711/4
  • * Imaging was not sufficient to identify or exclude polymicrogyria in one imaging study.

  • One interpeduncular, one cerebral peduncle, one pontomedullary.

  • JS, Joubert syndrome; OFD, oral-facial-digital syndrome.