| Sarah was born with sacral agenesis, which affects only one in 250,000 people. |
| A disruption of this gene was previsouly reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation. |
| After an uncomplicated delivery at 38 weeks, the infant suffered from occipital meningoencephalocele and cerebellar agenesis. |
| There is agenesis or dysgenesis of the cerebellar vermis and isthmic portion of the brainstem. |
| Could not agenesis have resulted from the concurrence of this tendency with mechanical causes? |
| Finally the authors wish to highlight the previously unreported finding of agenesis of the corpus callosum. |
