Publications by authors named "M L Moutard"

Article Synopsis
  • This study focuses on a rare prenatal diagnosis, specifically vermian cysts in fetuses, which had not been reported before.
  • Sixteen fetuses were included in the study, primarily female, with the cysts located in the vermian horizontal fissure, and all posterior fossa structures were found to be normal.
  • Postnatal outcomes for the majority were positive, with most children showing normal psychomotor development and no serious complications, although a few had minor developmental delays.
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Background And Purpose: Prognosis of isolated short corpus callosum is challenging. Our aim was to assess whether fetal DTI tractography can distinguish callosal dysplasia from variants of normal callosal development in fetuses with an isolated short corpus callosum.

Materials And Methods: This was a retrospective study of 37 cases referred for fetal DTI at 30.

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Article Synopsis
  • Inverted duplication deletion 8p (invdupdel(8p)) is a rare genetic condition linked to developmental delays and intellectual disabilities, often presenting with brain abnormalities.
  • A study analyzed 36 new cases, revealing that 97% of patients experienced developmental issues, with a significant number also suffering from seizures.
  • By comparing this data with 99 previously reported cases, researchers identified a specific 5.1 Mb region in chromosome 8 associated with abnormalities of the corpus callosum, offering insights into potential genetic factors involved.
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The phenotypic spectrum of STXBP1-related encephalopathy ranges from infantile epileptic encephalopathy to intellectual disability with nonsyndromic or absent epilepsy. Although being frequently reported, the tremor associated with STXBP1 has not been fully characterized to date. The aim of our study was to describe it.

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Introduction: Open fetal myelomeningocele (MMC) surgery is currently the standard of care option for prenatal MMC repair. We described the population referred to our center and reviewed outcome after open fetal MMC repair.

Material And Methods: All patients referred to our center for MMC were reviewed from July 2014 to June 2020.

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