Clinical features of patients with SRS and 11p15 duplications
SRS | GA | BL (cm) (SDS) | BW (kg) (SDS) | HC (cm) (SDS) | SGA | Relative macrocephaly at birth | Postnatal growth retardation | Low BMI at 2 years or feeding difficulties | Hemihypotrophy | Protruding forehead | Clinical score | Other |
Patient 3 | 29 | 30.5 (–5.19) | 0.71 (–3.14) | 25 (-1.2) | + | + | + | + | n.a. | + | 5 of 5 | Severe scoliosis; spinal fusion surgery |
Patient 4 | 38 | 40.5 (−5.0) | 1.64 (−3.7) | 32 (−2.0) | + | + | + | + | No | n.a. | 4 of 5* | |
Patient 5 | 34 | 37.0 (–4.57) | 1.1 (–3.61) | 29 (–1.8) | + | + | + | + | No | + | 5 of 6 | Salt wasting |
Patient 6 | 35 | 40.0 (–3.95) | 1.14 (–4.06) | 30 (–2.4) | + | + | + | + | No | + | 5 of 6 | Salt wasting |
Patient 13 | 36 | 43 (-2.0) | 2.12 (–2.0) | 31.5 (–1.5) | + | No | + | + | No | No | 3 of 6 | |
Patient 14 | 37 | 41.9 (–3.72) | 1.64 (–3.27) | n.a. | + | n.a. | + | No | No | + | 3 of 5* | Significant scoliosis |
Patient 15 | 36 | 43.2 (–2.33) | 1.45 (–3.25) | n.a. | + | n.a. | + | + | No | + | 4 of 5* | |
Patient 16 | 39 | 40.30 (–5.62) | 1.88 (–3.44) | 31.70 (–2.80) | + | + | + | + | No | + | 5 of 6 | |
Patient 17 | 35 | 40.6 (–2.63) | 1.39 (–3.16) | n.a. | + | n.a. | + | + | No | + | 4 of 5* |
*Because some clinical criteria were missing, clinical score was determined from 5 criteria instead of 6.
BL, birth length; BMI, body mass index; BW, birth weight; GA, gestational age at birth; HC, head circumference; n.a., not available; SDS, SD score; SRS, Silver-Russell syndrome.