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Holoprosencephaly
Definition |
Brain abnormality resulting from the failure of the two lobes to divide |
| Incidence | 1:16000 births |
| Diagnosis | Ultrasound features of absent midline structures (cavum septum pelucidi, falx cerebri etc.) |
| Gestation at diagnosis | 12 weeks onwards |
| Known chromosomal or genetic association | Yes, associated Trisomy 13. Genetically autosomally dominant, recessive and X-linked inheritance has been described |
| Further investigations | Karyotype. Consider MRI |
| Differential Diaganosis | Hydrancephaly Aqueductal stenosis Porencephaly |
| Prognosis | Poor. Many fetuses will die in-utero, if survive children usually die in early childhood and are severely handicapped |
| Recurrance risk | Low if not part of hereditary syndrome |
| Research Studies | None |
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