Sotos syndrome is a well-known overgrowth syndrome characterized by excessive 
growth during childhood, macrocephaly, distinctive facial appearance and 
learning disability. This disorder is caused by mutations or deletions in NSD1 
gene. The aim of this study is to examine the relationship between the 
neuroimaging and clinical features of children with Sotos syndrome. Six Turkish 
children with Sotos syndrome were followed up about 3-7 years. The diagnosis was 
confirmed with molecular genetic analysis. We identified the pathogenic NSD1 
mutation including three novel in all patients. All the patients had a 
characteristic facial gestalt of Sotos syndrome consisting of triangular face 
with prominent forehead, frontoparietal sparseness of hair and small nose. 
However, the degree of psychomotor and intellectual development was variable. 
Severe learning defect and speech delay were remarkable in two patients. The 
neuroimaging analysis showed abnormalities in four of six patients including 
bilateral large ventricles, thinning of the corpus callosum and persistent cavum 
septum pellucidum et vergae. Typical craniofacial appearance is the primary 
finding for the diagnosis of the disease even in the infantile period. However, 
the degree of psychomotor and intellectual development is very variable and does 
not correlate with the neuroimaging findings.