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Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.

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  • معلومة اضافية
    • الموضوع:
      2022
    • Collection:
      Université de Lausanne (UNIL): Serval - Serveur académique lausannois
    • نبذة مختصرة :
      To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20-year period (2000-2020), we investigated the frequencies of the imaging features in order to characterize an imaging pattern highly suggestive of the diagnosis. Among 20 cases included, arachnoid cysts associated with a distortion of the interhemispheric fissure were constantly encountered associated with complete or partial agenesis of the corpus callosum (19/20, 95%). This triad in the presence of other CNS disorganization, such as polymicrogyria (16/17, 94%), heterotopias (15/17, 88%), ventriculomegaly (14/20, 70%), cerebral asymmetry [14/20, 70%]) and less frequently extra-CNS anomaly (ocular anomalies [7/11, 64%], costal/vertebral segmentation defect [4/20, 20%]) represent a highly suggestive pattern of Aicardi syndrome in a female patient. Despite absence of genetic test to confirm prenatal diagnosis of AS, this combination of CNS and extra-CNS fetal findings allows delineation of a characteristic imaging pattern of AS, especially when facing dysgenesis of the corpus callosum.
    • File Description:
      application/pdf
    • Relation:
      info:eu-repo/semantics/altIdentifier/pmid/34984691; info:eu-repo/semantics/altIdentifier/eissn/1097-0223; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_07923668998E2; https://serval.unil.ch/notice/serval:BIB_07923668998E; https://serval.unil.ch/resource/serval:BIB_07923668998E.P001/REF.pdf
    • الرقم المعرف:
      10.1002/pd.6085
    • الدخول الالكتروني :
      https://serval.unil.ch/notice/serval:BIB_07923668998E
      https://doi.org/10.1002/pd.6085
      https://serval.unil.ch/resource/serval:BIB_07923668998E.P001/REF.pdf
      http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_07923668998E2
    • Rights:
      info:eu-repo/semantics/openAccess ; CC BY 4.0 ; https://creativecommons.org/licenses/by/4.0/
    • الرقم المعرف:
      edsbas.34EB4ADE