Figure 1.
Pedigrees of the two Italian families. (a) Squares denote males and circles denote females. Filled symbols denote individuals with confirmed affected status. Exomes of all the individuals were sequenced. Volume calculated using the software ITK-SNAP3.4.0 (http://www.itksnap.org/pmwiki/pmwiki.php). The mean value in pediatric controls was 173.5 (166.8–187.9) cm3. *The value was found statistically lower respect to controls. (b) T2/TSE sagittal MR image of the affected daughter of #VED pedigree (left) and T1/TSSE sagittal MR image of affected son of #DRN pedigree (right) showing pathologic tonsillar ectopia (arrow) through the foramen magnum before surgical decompression.