Table 1.
Corrected Data of Referred Patients with Clinical Diagnosis (Score ≥8) of Silver–Russell Syndrome (SRS)
| Patients | 1a | 2a | 3a | 4 | 5 | 6 | 7b | 8a | 9 | 10 | 11 | 12 | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Birth weight ≤10th ct | + | + | + | + | + | − | + | + | + | + | + | + | + |
| Birth length ≤10th ct | + | + | + | + | + | − | + | + | + | + | + | + | + |
| Relative macrocephaly >50th ct | + | + | + | − | − | − | − | − | − | − | − | − | − |
| Postnatal height ≤3rd ct | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Normal postnatal head circumference | + | + | + | + | − | + | − | − | − | − | + | + | − |
| Normal cognitive development | + | + | + | + | − | − | + | + | − | − | + | + | − |
| Facial asymmetry | + | + | − | + | − | + | − | − | − | − | − | − | − |
| Body asymmetry | + | − | − | − | + | + | + | − | − | − | − | − | − |
| Limb asymmetry | + | + | + | − | − | + | − | + | − | − | − | − | + |
| Triangular face | + | + | + | − | + | + | + | + | + | + | − | + | − |
| Prominent forehead | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Other facial features | + | + | + | + | + | − | + | − | + | + | − | + | + |
| Clinodactyly of fifth finger | + | + | + | + | + | − | + | + | + | + | + | − | + |
| Genital abnormality | − | − | − | − | + | + | − | − | − | + | − | − | + |
| Otherc | + | + | − | + | + | + | − | + | + | − | + | − | − |
| Total score | 14 | 13 | 11 | 10 | 10 | 9 | 9 | 9 | 8 | 8 | 8 | 8 | 8 |
a
Patients with imprinting control region 1 (ICR1) hypomethylation in 11p15.
b
Patient with duplication in region 11p15.5.
c
For example, brachymesophalangy, syndactyly of toes, inguinal hernia, and pigmentary changes.