Table 2

Clinical features of patients with SRS and 11p15 duplications

SRSGABL (cm) (SDS)BW (kg) (SDS)HC (cm) (SDS)SGARelative macrocephaly at birthPostnatal growth retardationLow BMI at 2 years or feeding difficultiesHemihypotrophyProtruding foreheadClinical scoreOther
Patient 32930.5 (–5.19)0.71 (–3.14)25 (-1.2)++++n.a.+5 of 5Severe scoliosis; spinal fusion surgery
Patient 43840.5 (−5.0)1.64 (−3.7)32 (−2.0)++++Non.a.4 of 5*
Patient 53437.0 (–4.57)1.1 (–3.61)29 (–1.8)++++No+5 of 6Salt wasting
Patient 63540.0 (–3.95)1.14 (–4.06)30 (–2.4)++++No+5 of 6Salt wasting
Patient 133643 (-2.0)2.12 (–2.0)31.5 (–1.5)+No++NoNo3 of 6
Patient 143741.9 (–3.72)1.64 (–3.27)n.a.+n.a.+NoNo+3 of 5*Significant scoliosis
Patient 153643.2 (–2.33)1.45 (–3.25)n.a.+n.a.++No+4 of 5*
Patient 163940.30 (–5.62)1.88 (–3.44)31.70 (–2.80)++++No+5 of 6
Patient 173540.6 (–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.