8 documents found, page 1 of 1
Amniotic band syndrome and limb body wall complex in Europe 1980-2019
Bergman, Jorieke E.H.; Barišić, Ingeborg; Addor, Marie‐Claude; Braz, Paula; Cavero‐Carbonell, Clara; Draper, Elizabeth S.Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. W...
Epidemiology of aplasia cutis congenita: A population‐based study in Europe
Coi, Alessio; Barisic, Ingeborg; Garne, Ester; Pierini, Anna; Addor, Marie‐Claude; Aizpurua Atxega, Amaia; Ballardini, Elisa; Braz, PaulaBackground: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies. Objectives: This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anoma...
Epidemiology of Pierre‐Robin sequence in Europe: A population‐based EUROCAT study
Santoro, Michele; Coi, Alessio; Barišić, Ingeborg; Pierini, Anna; Addor, Marie‐Claude; Baldacci, Silvia; Ballardini, Elisa; Boban, Ljubica; Braz, PaulaBackground: Pierre Robin sequence (PRS) is a rare congenital anomaly. Respiratory disorders and feeding difficulties represent the main burden. Objective: The aim of this study was to investigate the epidemiology of PRS using a cohort of cases from EUROCAT, the European network of population-based registries of congenital anomalies. Methods: We analysed cases of PRS born in the period 1998-2017 collected by 29 ...
Maternal risk factors for the VACTERL association: a EUROCAT case-control study
van de Putte, Romy; van Rooij, Iris A.L.M.; Haanappel, Cynthia P.; Marcelis, Carlo L.M.; Brunner, Han G.; Addor, Marie‐Claude; Cavero‐Carbonell, ClaraBackground: The VACTERL association (VACTERL) is the nonrandom occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Despite suggestions for involvement of several genes and nongenetic risk factors from small studies, the etiology of VACTERL remains largely unknown. Objective: To identify maternal risk factors for VACTERL in offspring...
Epidemiology of congenital cerebral anomalies in Europe: a multicentre, populat...
Morris, Joan K.; Wellesley, Diana G.; Barisic, Ingeborg; Addor, Marie-Claude; Bergman, Jorieke E.H.; Braz, Paula; Cavero-Carbonell, ClaraObjectives: To describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe. Design and setting: Congenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births). Participants: All birth outcomes...
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-base...
van de Putte, Romy; van Rooij, Iris A.L.M.; Marcelis, Carlo L.M.; Guo, Michel; Brunner, Han G.; Addor, Marie-Claude; Cavero-Carbonell, ClaraBackground: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTE...
Prevalence of microcephaly in Europe: population based study
Morris, Joan K.; Rankin, Judith; Garne, Ester; Loane, Maria; Greenlees, Ruth; Addor, Marie-Claude; Arriola, Larraitz; Barisic, IngeborgObjectives: To provide contemporary estimates of the prevalence of microcephaly in Europe, determine if the diagnosis of microcephaly is consistent across Europe, and evaluate whether changes in prevalence would be detected using the current European surveillance performed by EUROCAT (the European Surveillance of Congenital Anomalies). Design: Questionnaire and population based observational study. Setting: 24 ...
Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagno...
Barisc, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-ClaudeMeckel–Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia,occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January...