Does phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlate with expression during human development?
These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from CHD7 dysfunction.
Our observations suggest VEPTR is a reasonable treatment option for spinal deformity in the immature, nonambulatory myelodysplasia population correcting the spinal deformity, allowing spinal growth, and maintaining adequate respiratory function. The rate of complications is within the range reported for spinal fusion using standard approaches.