Sotos syndrome is a multiple anomaly syndrome characterized by pre- and 
postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, 
and distinctive facial phenotype. Autosomal dominant mutations and deletions of 
the nuclear receptor set domain gene (NSD1), which is located at chromosome 
5q35, are responsible for most of the cases. We describe a six-year old boy who 
had tall stature, macrocephaly, typical facial appearance, learning disability, 
megaloencephaly, corpus callosum dysgenesis, and colpocephaly. Although he had 
normal bone age, the diagnosis of Sotos syndrome was suspected with these 
clinical findings, and fluorescence in situ hybridization analysis of the 
patient showed a heterozygous deletion covering the NSD1 region in the 5q35 
locus. A brief overview of the syndrome is presented.