Table 1

Clinical features of patients with BWS and 11p15 duplications

BWSGABL (cm) (SDS)BW (kg) (SDS)Macrosomia at birthMacroglossiaAbdominal wall defectVisceromegalyHemihyperplasiaNeonatal hypo glycaemiasEar anomaliesFacial naevus flammeusTumour
Patient 13648.5 (0.6)3.55 (2.7)++++
Patient 23750 (0.8)3.820 (2.5)++Diastasis+++
Patient 73750 (0.8)3.47 (1.6)++ (UH)++
Patient 83752 (1.9)4.47 (4.3)++++
Patient 93648 (0.3)3.33 (2.1)+++ (UH)n.a.+n.a.
Patient 103951 (0.2)4.21 (2)+++++
Patient 11n.a.544.8++n.a.n.a.n.a.n.a.+n.a.+ (Nephroblastoma)
Patient 124051 (−0.1)4.7 (+2.7)++Diastasis++
Patient 1828n.a.n.a.+++(UH)+n.a.n.a.n.a.n.a.n.a.
Patient 19n.a.n.a.n.a.n.a.+n.a.n.a.
  • BL, birth length; BW, birth weight; BWS, Beckwith-Wiedemann syndrome; GA, gestational age at birth; n.a., not available; SDS, SD score; UH, umbilical hernia.