Publications by authors named "Kim Giraudat"
Article Synopsis
- The study investigates anomalies of the corpus callosum (ACC), a common brain malformation, highlighting that the genetic causes of ACC without intellectual disability (ID) are not well understood.
- Researchers identified a new dominant gene associated with ACC, reporting on nine individuals with a specific genetic variant linked to both familial inheritance and normal cognitive function.
- Findings indicate that this gene may lead to ACC while maintaining normal intellectual abilities, suggesting a broader range of physical malformations associated with it beyond just eye conditions.
White-Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic pogo transposable element-derived protein with zinc finger domain (POGZ) variants. The purpose of our study was to describe the neurocognitive phenotype of an unbiased national cohort of patients with identified POGZ pathogenic variants. This study is based on a French collaboration through the AnDDI-Rares network, and includes 19 patients from 18 families with POGZ pathogenic variants.
View Article and Find Full Text PDFBackground: Expanding the posterior cranial vault has become a common procedure in the treatment of complex craniosynostosis. Several techniques are available to remodel the posterior vault. Aim of this study was to analyze the posterior vault distraction osteogenesis.
View Article and Find Full Text PDFBackground: Bilambdoid and sagittal synostosis (BLSS), also called "Mercedes Benz synostosis," is a multisutural craniosynostosis that has been described as a specific entity. However, this synostotic pattern can also be found in syndromic craniostenosis. To better define this entity we reviewed our experience with bilambdoid and sagittal synostosis.
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