A practical imaging-based classification of cerebellar malformations distinguishes between focal and diffuse conditions, and between cerebellar hypoplasias and cerebellar dysplasias [1]; among the latter, an important subgroup is represented by cerebellar cortical dysplasias (CCD). CCD has been reported in association with chromosomal abnormalities, congenital muscular dystrophies, other suprat...

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, a...