Publications by authors named "C Dubucs"
We present two types of FBT for which diagnostic orientation was initially erroneous because of the challenging antenatal diagnosis of FBT. Autopsy enabled to rectify the initial antenatal diagnosis and establish the FBT phenotypic profile.
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- Congenital ocular anomalies (COA) are a leading cause of visual impairment in children in high-income countries, and this study aimed to evaluate their prevalence in European registries.
- Data from 19 EUROmediCAT registries and one healthcare database revealed a prevalence of COA at 3.47 cases per 10,000 births, with congenital lens anomalies being the most common type.
- The findings suggest the need for better screening and early diagnosis of COA, highlighting the importance of large-scale epidemiological studies for understanding these conditions.
Even though a non-negligible portion of congenital eye anomalies has a clear genetic origin, an etiology is not found for most patients. Prenatal medication exposure is recognized to be involved in fetal malformations and several medications are specifically known to alter eye morphogenesis during embryonic development leading to congenital eye defects. We explored and reviewed the role of medications described in the genesis of ocular malformations, a role that has been little evaluated and probably still underestimated especially since several studies have shown the wide exposure of pregnant women to medication.
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- Transient Bartter syndrome caused by MAGED2 variants is the newest type of antenatal Bartter syndrome and presents as the most severe form during the perinatal period; this study examines 14 new cases and the incomplete penetrance specifically in women.
- The research involved 54 symptomatic patients, revealing a mix of outcomes: 27% resolved symptoms, 41% had ongoing complications, and 32% faced fatality, with common clinical anomalies including renal and cardiovascular issues.
- The findings enhance the understanding of MAGED2’s phenotype and genetics, while also highlighting varying patient outcomes, which informs genetic counseling for affected families.