Romy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, Michel Guo, Han G Brunner, Marie-Claude Addor, Clara Cavero-Carbonell, Carlos M Dias, Elizabeth S Draper, Larraitz Etxebarriarteun, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Jenny J Kurinczuk, Monica Lanzoni, Anna Latos-Bielenska, Karen Luyt, Mary T O'Mahony, Nicola Miller, Carmel Mullaney, Vera Nelen, Amanda J Neville, Isabelle Perthus, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Bruno Schaub, David Tucker, Diana Wellesley, Awi Wiesel, Natalya Zymak-Zakutnia, Maria Loane, Ingeborg Barisic, Hermien E K de Walle, Nel Roeleveld, Jorieke E H Bergman
BACKGROUND: 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 VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes...
September 9, 2019: Pediatric Research