Publications by authors named "C Rooryck"
Background: loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence of gene dosage anomalies and investigates genotype-phenotype correlations in a large cohort of French patients with BPNH.
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- - The study compares genotypes between pediatric cardiomyopathy (pCM) and adult-onset cardiomyopathy (aCM) to understand why pCM has earlier onset and differs in severity.
- - Analysis of 253 pCM patients revealed a higher rate of genetic variants, particularly in restrictive pCM, and identified critical risk factors for adverse outcomes such as early diagnosis and presence of multiple variants.
- - Genetic testing not only clarified the genetic basis for pCM but also enhanced genetic counseling for families, resulting in cases of prenatal diagnosis.
Article Synopsis
- * A case was presented involving a 21-year-old woman with several health issues, including bilateral glaucoma and radiculomegaly, confirmed through cone-beam CT scans.
- * Genetic testing identified a specific mutation related to OFCD syndrome, and further scans revealed an atrial septal defect that was surgically repaired, highlighting the critical role of diagnosing radiculomegaly for effective clinical management and cardiac evaluations.
Article Synopsis
- Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
- A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
- Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.