Clinical findings in individuals with SOS2 variants
| Clinical findings | Brazil F1 | Brazil F2 | USA F1 | ||
|---|---|---|---|---|---|
| Br-1.1 | Br-1.2 | Br-2.1 | US-1.1 | US-1.2 | |
| Proband | Mother | Proband | Proband | Mother | |
| Sex | Female | Female | Male | Female | Female |
| Age | 13 years 4 months | 51 years | 9 years | 2 years 2 months | 34 years |
| Perinatal data | |||||
| Gestational age | Term | Term | Term | Term | |
| BW, g | 3745 | 3585 | 3459 | ||
| Length, cm | 46 | 50 | 50.8 | ||
| Typical facial features | + | + | + | + | + |
| Current height | 135 cm (11 years 8 months) | 145 cm | 110.5 cm | 83.8 cm | |
| Height SDS for WHO-standard | −1.8 | −2.8 | −3.9 | −0.3 | |
| Height SDS for NS-standard | 0.8 | −0.5 | −1.4 | 2.7 | |
| Short/webbed neck | + | + | + | + | + |
| Pectus deformity | − | − | − | − | − |
| Cardiac abnormality | AoCo | − | ASD/VSD | PVS | − |
| GU abnormality | |||||
| Cryptorchidism | NA | NA | + | NA | NA |
| Renal abnormality | − | − | +* | ||
| Abnormal hemostasis | + | + | |||
| Prolonged APTT | + | + | |||
| Factor XI deficiency | − | − | |||
| Ophthalmological abnormality | + | − | |||
| Funduscopy | − | − | |||
| Prominent corneal nerves | + | − | |||
| Ectodermal findings | + | + | + | + | − |
| Curly hair | + | + | + | + | − |
| Sparse eyebrows | + | + | + | + | − |
| Hyperkeratosis pilaris | + | + | + | − | − |
| Ulerythema ophriogenes | + | + | + | − | − |
| Tumours | − | − | − | − | − |
| Developmental delay | − | − | + | + | − |
| Learning disability | + | − | + | − | − |
| Other findings | Slow eruption of primary dentition | Chronic leg pain | |||
| Mutation (NM_006939.2) | c.1127C>G; p.T376S | c.800T>A; p.M267K | c.1127C>G; p.T376S | ||
*Mild/moderate left pelviectasis and proximal hydroureter.
AoCo, aorta coarctation; APTT, activated partial thromboplastin time; ASD, atrial septal defect; BW, birth weight; GU, genitourinary; NA, not applicable; NS, Noonan syndrome; PVS, pulmonary valve stenosis; SDS, SD score; VSD, ventricular septal defect.