Table 2

Clinical findings in individuals with SOS2 variants

Clinical findingsBrazil F1Brazil F2USA F1
Age13 years 4 months51 years9 years2 years 2 months34 years
Perinatal data
 Gestational ageTermTermTermTerm
 BW, g374535853459
 Length, cm465050.8
Typical facial features+++++
Current height135 cm (11 years 8 months)145 cm110.5 cm83.8 cm
 Height SDS for WHO-standard−1.8−2.8−3.9−0.3
 Height SDS for NS-standard0.8−0.5−1.42.7
Short/webbed neck+++++
Pectus deformity
Cardiac abnormalityAoCoASD/VSDPVS
GU abnormality
 Renal abnormality+*
Abnormal hemostasis++
 Prolonged APTT++
 Factor XI deficiency
Ophthalmological abnormality+
 Prominent corneal nerves+
Ectodermal findings++++
 Curly hair++++
 Sparse eyebrows++++
 Hyperkeratosis pilaris+++
 Ulerythema ophriogenes+++
Developmental delay++
Learning disability++
Other findingsSlow eruption of primary dentitionChronic leg pain
Mutation (NM_006939.2)c.1127C>G; p.T376Sc.800T>A; p.M267Kc.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.