Sotos Syndrome Type 1 and Type 2: Case Series of 4 Pediatric Patients with Variants in NSD1 and NFIX Genes

Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth macrocephaly, distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In addition, Sotos-like syndromes are also recognized, including Malan syndrome, known as type 2, which caused NFIX gene.
 Herein we present series of 3 pediatric patients diagnosed 1 patient 2 discuss their genotypes phenotypes.