Table 2

Congenital anomalies in patients with Silver–Russell syndrome with hypomethylation of the imprinting control region (ICR) 1 and maternal uniparental disomy of chromosome 7 (mUPD7)

AnomalyICR1 hypomethylation (n=44)mUPD7 (n=20)
PalateCleft palate (2)*
Bifid uvula (2)
Palatal insufficiency (1)
Ankyloglossia (1)
HeartVentricular septal defect (3)
Atrial septal defect (1)
Patent ductus arteriosus (1)
Male genitalBilateral undescended testes (3)
Hypospadias (1)
RenalHorseshoe kidney (1)
Unilateral renal dysplasia (1)
SkeletalScoliosis (4)
Hip dysplasia (2)
Talipes equinovarus (1)
Radial hypoplasia, absent thumbs (1)
Limited elbow supination (1)
Scoliosis (1)
OtherIris coloboma (1)
Ileal insufficiency (1)
  • ↵* Including patient with mosaic mUPD11.25