PTPN11 and Chiari malformation type I: The first case reported in 2022 was that of a newborn with PTPN11 mutations.1Another case was that of a child with DWM who was diagnosed with NS at 16 years old due to further investigations for concerns of their short stature and delayed puberty.2A recent case study also described a 5-year-old patient who was diagnosed with NS (PTPN11 mutation) with Chiari malformation type I and syringomyelia.3In addition, another case report by Weinstock described a patient with NS and a pathogenic RRAS2 variant (p.Q72L), which is a different mutation from the one described herein.