Table 2:
Clinical Features of Patients with Sotos Syndrome and HI
| Patient 1 | Patient 2 | Patient 3 | Patient 4ss | Patient 5 | Patient 6 | Patient 7 | Totals | |
|---|---|---|---|---|---|---|---|---|
| Gender | Female | Female | Male | Male | Male | Female | Male | |
| Clinical Features | ||||||||
| Central nervous system | ||||||||
| Hypotonia | + | − | + | − | + | + | − | 4/7 |
| Other | Tethered cord; seizures; prominent supratentorial ventricles; diffuse thinning of corpus callosum | Diffuse thinning of corpus callosum; moderate to severe delays in myelination; ventriculomegaly | Periventricular leukomalacia | Abnormal EEG (background dyssyncrhony) | ||||
| Cardiology | ||||||||
| Cardiac defect | - | PDA; small PFO vs ASD | LV enlargement | PDA; small PFO vs ASD | VSD | PDA; ASD | - | 5/7 |
| Genitourinary | ||||||||
| - | Pelvicaliectasis | - | Hydroceles (bilaterally) | - | - | - | 2/7 | |
| Other clinical features | ||||||||
| Sacrococcygeal teratoma; scoliosis | Sacrococcygeal teratoma; obstructive sleep apnea | Metopic craniosynostosis | Congenital kyphosis; umbilical hernia | - | Bronchopulmonary dysplasia; recurrent aspiration pneumonia; hiatal hernia | - | ||
| Atypical features | ||||||||
| Failure to thrive; Sacrococcygeal teratoma | Sacrococcygeal teratoma | Metopic craniosynostosis | Failure to thrive | |||||
EEG- electroencephalogram; PDA- patent ductus arteriosis; PFO- patent foramen ovale; ASD- atrial septal defect; VES- ventricular septal defect