Publications by authors named "Marie C Addor"
Objectives: This study aimed to evaluate the risk of congenital malformation among pregnant women exposed to the mRNA COVID-19 vaccines during the first trimester of pregnancy, which is a developmental period where the foetus is at risk of teratogenicity.
Methods: Pregnant women were prospectively enrolled from March 2021 to March 2022, at the time of COVID-19 vaccination. Pregnant women exposed to at least one dose of mRNA COVID-19 vaccine from conception to 11 weeks of gestations and 6 days were compared with pregnant women exposed to the vaccine from 12 weeks to the end of pregnancy.
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.
Birth Defects Res
December 2022
Article Synopsis
- Younger mothers in the UK face a higher risk of pregnancy complications like gastroschisis, which is linked to vascular disruptions, prompting a study to explore the prevalence of other similar anomalies in this demographic.
- An analysis of data from 26 European congenital anomaly registries revealed that the UK had a significantly higher prevalence of vascular disruption anomalies (8.85 per 10,000 births) compared to other European countries (5.44 per 10,000 births), even after adjusting for maternal age.
- The study found that younger mothers had increased rates of anomalies like gastroschisis and congenital constriction bands, while anomalies with weaker links to maternal age, such as transverse limb reduction defects,
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
July 2017
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD.
View Article and Find Full Text PDFFrontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is gain-of-function mutations in FLNA, although how these mutations result in a hyperostotic phenotype remains unknown. Approximately one half of individuals with FMD have no identified mutation in FLNA and are phenotypically very similar to individuals with FLNA mutations, except for an increased tendency to form keloid scars.
View Article and Find Full Text PDF