Abstract:
Holoprosencephaly is a rare and complex malformation that affects one case per 15,000 births and results from an abnormality in the cleavage of the prosencephal. It is often associated with chromosomal abnormalities in 50% of cases such as trisomy 13. This pathology is accessible to prenatal diagnosis by an antenatal ultrasound examination, there are essentially 3 forms of increasing severity whose diagnosis is easier in the more severe the form. The prognosis is generally poor and management is difficult. For the viable forms, psychomotor retardation, abnormal movements, spastic quadriparesis, epileptic seizures, endocrinological and olfactory and visual sensory anomalies are associated.
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