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Abstract


RÉSUMÉ
L’holoprosencéphalie (HPE) est la malformation cérébrale la plus fréquente. Plusieurs mutations génétiques sont associées à sa survenue. Il est également caractérisé par une hétérogénéité phénotypique sans corrélation avec la génétique. Des causes non génétiques ont été décrites. Nous rapportons dans cet article 6 cas d’HPE diagnostiqués en anténatal essentiellement à l’échographie, mais tardivement. Il s’agissait de cas sporadiques dans les familles concernées, non syndromiques. L’objectif est de reposer le débat de l’étiologie, du diagnostic anténatal dans un pays où l’accès à l’imagerie par résonance magnétique est limité mais aussi du pronostic de cette malformation cérébrale.
ABSTRACT
Holoprosencephaly (HPE) is the most common brain malformation entailing various genetic mutation. It is also characterized by phenotypic heterogeneity. Non-genetic cases have been described. We report in this paper six cases of HPE diagnosed by antenatal ultrasound. These were sporadic cases in different families. The aim is to debate on etiology, antenatal diagnosis in a country with difficult access to Magnetic Resonance Imaging is limited.

Keywords

Holoprosencéphalie échographie.

Article Details

How to Cite
Ndiaye, M. D., Gueye, M., Diallo, M., Fall, K. B., Diakhate, A., Wade, M., & Mbaye, M. (2020). Holoprosencéphalie Sporadique non Syndromique : Report de Six Nouveaux Cas à Dakar. HEALTH SCIENCES AND DISEASE, 21(3). https://doi.org/10.5281/hsd.v21i3.1879

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