Congenital anomalies identified in the cohort of 33 patients by genotype
| Phenotype | All cases (n=33) | H19/IGF2 LOM (n=27) | matUPD7 (n=6) | P value |
| Congenital anomaly present | 54.5% | 63.0% | 16.7% | 0.07 |
| Cleft palate/Bifid uvula | 9.1% | 11.5% | 0% | 0.6 |
| Female genital anomalies | 16.7% (n=18) | 20.0% (n=15) | 0% (n=3) | 0.6 |
| Male genital anomalies | 33.3% (n=15) | 41.7% (n=12) | 0% (n=3) | 0.5 |
| Cardiac anomalies | 3 | 2 | 1 | |
| Brain anomalies | 1 | 1 | 0 | |
| Renal anomalies | 3 | 2 | 1 | |
| Radial anomalies | 1 | 1 | 0 | |
| Thumb anomalies | 2 | 2 | 0 | |
| Coloboma | 1 | 1 | 0 | |
| Scoliosis/Kyphoscoliosis | 8 | 7 | 1 | 0.7 |
| Limited elbow supination/Congenital dislocation | 3 | 3 | 0 | 0.6 |
| Camptodactyly | 5 | 5 | 0 | 0.6 |
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.