Summary of congenital abnormalities associated with the X linked VACTERL-H phenotype in the affected fetuses III-1 and II-2
| Abnormality | Fetus III-1 | Fetus II-2 |
|---|---|---|
| ASD, atrial septal defect; IUGR, intrauterine growth retardation; VSD, ventricular septal defect. | ||
| Brain | Bilateral ventriculomegaly, patent aqueduct | Hydrocephalus, Arnold-Chiari malformation |
| Vertebral | Abnormal cervical (C2–C6) vertebrae | Lumbar (L5/S1) spina bifida occulta |
| Alimentary system | Normal | Oesophageal atresia |
| Cardiac | Normal | ASD, VSD, aortic coarctation |
| Trachea and oeseophagus | Normal | Fistula |
| Renal | Agenesis left kidney and ureter | Agenesis right kidney, dysplastic left kidney |
| Limb | Absent radii and thumbs | Absent radii and thumbs |
| Genital | Undescended testes | Normal |
| Ears | Normal | Non-patent external auditory meatus, low set left ear |
| Lung | Incomplete lobation | Not known |
| Cord vessels | Single umbilical artery | Not known |
| Growth | IUGR | IUGR |
| Chromosomes | 46,XY, abnormal breakage with diepoxybutane | Not known |