Table 3

Congenital anomalies identified in the cohort of 33 patients by genotype

PhenotypeAll cases (n=33)H19/IGF2 LOM (n=27)matUPD7 (n=6)P value
Congenital anomaly present54.5%63.0%16.7%0.07
Cleft palate/Bifid uvula9.1%11.5%0%0.6
Female genital anomalies16.7% (n=18)20.0% (n=15)0% (n=3)0.6
Male genital anomalies33.3% (n=15)41.7% (n=12)0% (n=3)0.5
Cardiac anomalies321
Brain anomalies110
Renal anomalies321
Radial anomalies110
Thumb anomalies220
Coloboma110
Scoliosis/Kyphoscoliosis8710.7
Limited elbow supination/Congenital dislocation3300.6
Camptodactyly5500.6
  • Radial and thumb anomalies included hypoplasia of the radii with absent thumbs bilaterally, a bifid thumb, congenital dislocation of the radial head. Of the three individuals with cleft palate, a bifid uvula only was present in one of these cases. The genital anomalies in females included: 1) vaginal agenesis with a hypoplastic uterus and single ovary; 2) hypoplastic genitalia with pronounced labia minora and a history of vaginal hernia and 3) a bicornuate uterus with double cervix. The genital anomalies in males included: 1) a history of bilateral cryptorchidism in four cases and 2) a history of ambiguous genitalia and severe hypospadias. The cardiac anomalies were 1) tricuspid valve regurgitation; 2) cardiac juxtaposition and 3) history of coarctation of the aorta with multiple ventriculo-septal defects. The renal anomalies reported were 1) a solitary kidney with crossed fused ectopia; 2) horseshoe kidney and 3) malrotation of one kidney. There was one case of ‘congenital hip dislocation’. The coloboma was of the iris only. The brain abnormality was reported as a dysplastic corpus callosum.

  • LOM, loss of methylation; matUPD7, maternal uniparental disomy of chromosome 7.