Table 1.
Clinical Features in the Scoring System of Noonan Syndrome Proposed by van der Burgt15 in Individuals with RRAS2 Mutations
| Individual | NS462 | NS833 | HU1 |
|---|---|---|---|
| Sex | female | female | male |
| Age at evaluation | 6 years | 4 years | 3 years |
| Initial diagnosis | NS or CFC | NS | undiagnosed |
| RRAS2 variant | c.70_78dup (p.Gly24_Gly26dup) | c.[216A>T;224T>G], p.[(Gln72His);(Phe75Cys)] | c.215A>T (p.Gln72Leu) |
| Facial dysmorphology | typical | typical | suggestive |
| Cardiac feature | pulmonic stenosis | − | dilated cardiomyopathy |
| Short stature (SD) | − (+0.2) | + (−2.4) | + (−5.9) |
| Pectus abnormalities | − | pectus excavatum | pectus excavatum |
| Family history | simplex | simplex | simplex |
| Intellectual disability (ID), cryptorchidism, and lymphatic dysplasia | − | mild ID | severe ID, cryptorchidism |