3 documents found, page 1 of 1
Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based...
Santoro, Michele; Coi, Alessio; Barišić, Ingeborg; Garne, Ester; Addor, Marie-Claude; Bergman, Jorieke E.H.; Bianchi, Fabrizio; Boban, LjubicaBackground: Dandy-Walker (DW) malformation is a rare and severe congenital anomaly of the posterior fossa affecting the development of the cerebellum and the fourth ventricle. Objective: The aim of this study was to investigate the epidemiology of DW malformation, using data from the European population-based registries of congenital anomalies in the European Surveillance of Congenital Anomalies network. Method...
Epidemiology of achondroplasia: a population‐based study in Europe
Coi, Alessio; Santoro, Michele; Garne, Ester; Pierini, Anna; Addor, Marie‐Claude; Alessandri, Jean‐Luc; Bergman, Jorieke E.H.; Bianchi, FabrizioAchondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991-2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associa...
Long term trends in prevalence of neural tube defects in Europe: population bas...
Khoshnood, Babak; Loane, Maria; Walle, Hermien de; Arriola, Larraitz; Addor, Marie-Claude; Barisic, Ingeborg; Beres, Judit; Bianchi, FabrizioStudy question: What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? Methods: This was a population based, observational stud...