In:
Prenatal Diagnosis, Wiley, Vol. 42, No. 4 ( 2022-04), p. 484-494
Abstract:
What is already known about this topic? Aicardi syndrome (AS) is a rare developmental encephalopathy, characterized by the classic triad of infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae As the genetic etiology of AS is unknown and its classic triad cannot be extrapolated to prenatal diagnosis, to establish a prenatal imaging pattern is of major interest What does this study add? We confirmed and completed a prenatal imaging pattern highly suggestive of AS, based on the most frequent features encountered in a large series: arachnoid cysts associated with a distortion of the interhemispheric fissure, agenesis of the corpus callosum, cortical malformations and heterotopias, and less frequently extra‐CNS anomaly (ocular anomalies, costal/vertebral segmentation defect)
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2022
detail.hit.zdb_id:
1491217-X
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