• 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.; Echevarría-González-de-Garibay, Luis J.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Latos-Bielenska, Anna; Luyt, Karen; Martin, Danielle; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary T.; Perthus, Isabelle; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Gerardine; Schaub, Bruno; Stevens, Sarah; Tucker, David; Verellen-Dumoulin, Christine; Wiesel, Awi; Gerkes, Erica H.; Perraud, Annie; Loane, Maria A.; Wellesley, Diana; de Walle, Hermien E. K. (Journal article; Peer reviewed, 2022)
      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 ...
    • Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study 

      Morris, Joan K.; Wellesley, Diana G.; Barisic, Ingeborg; Addor, Marie-Claude; Bergman, Jorieke E. H.; Braz, Paula; Cavero-Carbonell, Clara; Draper, Elizabeth S.; Gatt, Miriam; Haeusler, Martin; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Lelong, Natalie; Luyt, Karen; Lynch, Catherine; O'Mahony, Mary T.; Mokoroa, Olatz; Nelen, Vera; Neville, Amanda J.; Pierini, Anna; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David F.; Verellen-Dumoulin, Christine; Wiesel, Awi; Zymak-Zakutnia, Natalia; Lanzoni, Monica; Garne, Ester (Peer reviewed; Journal article, 2019)
      Objectives: 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, ...
    • Epidemiology of Dandy-Walker malformation in Europe: A EUROCAT population-based registry study 

      Santoro, Michele; Coi, Alessio; Barišić, Ingeborg; Garne, Ester; Addor, Marie-Claude; Bergman, Jorieke E.H.; Bianchi, Fabrizio; Boban, Ljubica; Braz, Paula; Cavero-Carbonell, Clara; Gatt, Miriam; Haeusler, Martin; Kinsner-Ovaskainen, Agnieszka; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Lelong, Nathalie; Luyt, Karen; Materna-Kiryluk, Anna; Mokoroa, Olatz; Mullaney, Carmel; Nelen, Vera; Neville, Amanda Julie; O'Mahony, Mary T.; Perthus, Isabelle; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Yevtushok, Lyubov; Pierini, Anna (Peer reviewed; Journal article, 2019)
      Background: 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 ...
    • 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, Paula; Cavero-Carbonell, Clara; de Walle, Hermien E.K.; Draper, Elizabeth S.; Gatt, Miriam; Haeusler, Martin; Klungsøyr, Kari; Kurinczuk, Jennifer J.; Materna-Kiryluk, Anna; Lanzoni, Monica; Lelong, Nathalie; Luyt, Karen; Mokoroa, Olatz; Mullaney, Carmel; Nelen, Vera; O'Mahony, Mary T.; Perthus, Isabelle; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, Bruno; Tucker, David; Wellesley, Diana; Zymak-Zakutnia, Nataliia; Garne, Ester (Journal article; Peer reviewed, 2021)
      Background 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 ...
    • Holt Oram syndrome: a registry-based study in Europe 

      Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke E. H.; Braz, Paula; Budd, Judith L. S.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsøyr, Kari; McDonnell, Bob; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Dolk, Helen (Peer reviewed; Journal article, 2014-10-25)
      Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from ...
    • Prevention of Neural Tube Defects in Europe: A Public Health Failure 

      Morris, Joan K.; Addor, Marie-Claude; Ballardini, Elisa; Barisic, Ingeborg; Barrachina-Bonet, Laia; Braz, Paula; Cavero-Carbonell, Clara; Den Hond, Elly; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Lelong, Nathalie; Kinsner-Ovaskainen, Agnieszka; Kiuru-Kuhlefelt, Sonja; Klungsøyr, Kari; Latos-Bielenska, Anna; Limb, Elisabeth; O'Mahony, Mary T.; Perthus, Isabelle; Pierini, Anna; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Sayers, Gerardine; Sipek, Antonin; Stevens, Sarah; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien E.K.; Wellesley, Diana; Wertelecki, Wladimir; Bermejo-Sanchez, Eva (Journal article; Peer reviewed, 2021)
      Objective: Thirty years ago it was demonstrated that folic acid taken before pregnancy and in early pregnancy reduced the risk of a neural tube defect (NTD). Despite Public Health Initiatives across Europe recommending ...