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 intelligence. A de novo nonsense variant was detected in the NSD1 gene NM₀22455. 5: c. 1782dup p. (Glu595Ter), confirmed by family segregation analysis, which has not been previously described in the literature. The patient also presented with hypotonia, hypoglycemia, neonatal jaundice, strabismus, scoliosis, seizures, and attention-deficit disorder. This report contributes to our understanding of the phenotypic spectrum of Sotos syndrome in Latin America and highlights the importance of a multidisciplinary approach, as well as timely access to genetic testing to confirm the diagnosis and guide comprehensive patient care.
Páez et al. (Thu,) studied this question.