Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.

Abstract excerpt

Sotos syndrome is a genetic disorder characterized by distinctive facial features, intellectual disability, and excessive growth. It is associated with pathogenic variants in the NSD1 gene, most of which are de novo.We present the case of an 11-year-old girl with overgrowth (height more than 2 standard deviations above the mean), typical craniofacial dysmorphisms, global neurodevelopmental delay, and borderline...

Topics

• Humans
• Female
• Sotos Syndrome
• Child
• Histone-Lysine N-Methyltransferase
• Phenotype