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Agenesis Corpus Callosum
Definition |
Failure of formation of the connecting fibres between the two cerebral hemispheres |
| Incidence | 3-7:1000 livebirths |
| Diagnosis | Ultrasound |
| Gestation at diagnosis | 20 weeks onwards |
| Known cause, chromosomal or genetic association | Chromosomal 10-20% (Trisomy 18,13,8 & Triploidy), Multiple autosomally recessive syndromes (Aicardi, Meckel-Gruber, Fryn, Apert, Walker-Walburg) |
| Further investigations | Karyotype, If known familial syndrome genetic testing for some above syndromes, MRI |
| Differential Diaganosis | Mild Ventriculomegaly Holoprosencephaly Septo-optic dysplasia |
| Prognosis | If isolated 64% normal at 3 years, but poor long term data |
| Recurrance risk | If isolated low |
| Research Studies |
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