BACKGROUND: Some factors(s)/features(s) of maternal insulin-dependent diabetes mellitus are considered common human teratogens. Although the variable association of cardiac, renal, and skeletal anomalies are commonly observed in infants from diabetic mothers, the relationship between VACTERL (i.e., the association of vertebral and cardiac defects, tracheo-esophageal fistula, renal/radial malformations, and other limb anomalies) and maternal diabetes has not been sufficiently emphasized in the literature. CASE: We report on a 3-year-old boy presenting with a constellation of blastogenetic malformations strongly suggestive of VACTERL association. His mother was affected by insulin-dependent diabetes since she was 7 years old and pregnancy history disclosed very high glucose and HbA1c levels, especially during the first 2 gestational months. CONCLUSIONS: In an attempt to properly counsel the parents, we reviewed the literature and identified four additional patients with VACTERL and first trimester exposure to maternal diabetes mellitus. Although this evidence does not strongly support a causal relationship between these two conditions, additional arguments may substantiate this hypothesis. The pathogenesis of diabetic embryopathy in relation to the VACTERL phenotype is also discussed. (c) 2008 Wiley-Liss, Inc.
BACKGROUND: Some factors(s)/features(s) of maternal insulin-dependent diabetes mellitus are considered common human teratogens. Although the variable association of cardiac, renal, and skeletal anomalies are commonly observed in infants from diabetic mothers, the relationship between VACTERL (i.e., the association of vertebral and cardiac defects, tracheo-esophageal fistula, renal/radial malformations, and other limb anomalies) and maternal diabetes has not been sufficiently emphasized in the literature. CASE: We report on a 3-year-old boy presenting with a constellation of blastogenetic malformations strongly suggestive of VACTERL association. His mother was affected by insulin-dependent diabetes since she was 7 years old and pregnancy history disclosed very high glucose and HbA1c levels, especially during the first 2 gestational months. CONCLUSIONS: In an attempt to properly counsel the parents, we reviewed the literature and identified four additional patients with VACTERL and first trimester exposure to maternal diabetes mellitus. Although this evidence does not strongly support a causal relationship between these two conditions, additional arguments may substantiate this hypothesis. The pathogenesis of diabetic embryopathy in relation to the VACTERL phenotype is also discussed. (c) 2008 Wiley-Liss, Inc.
Authors: Iêda M Orioli; Emmanuelle Amar; Jazmin Arteaga-Vazquez; Marian K Bakker; Sebastiano Bianca; Lorenzo D Botto; Maurizio Clementi; Adolfo Correa; Melinda Csaky-Szunyogh; Emanuele Leoncini; Zhu Li; Jorge S López-Camelo; R Brian Lowry; Lisa Marengo; María-Luisa Martínez-Frías; Pierpaolo Mastroiacovo; Margery Morgan; Anna Pierini; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla Journal: Am J Med Genet C Semin Med Genet Date: 2011-10-14 Impact factor: 3.908
Authors: Romy van de Putte; Iris A L M van Rooij; Cynthia P Haanappel; Carlo L M Marcelis; Han G Brunner; Marie-Claude Addor; Clara Cavero-Carbonell; Carlos M Dias; Elizabeth S Draper; Larraitz Etxebarriarteun; Miriam Gatt; Babak Khoshnood; Agnieszka Kinsner-Ovaskainen; Kari Klungsoyr; Jenny J Kurinczuk; 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; Jorieke E H Bergman; Nel Roeleveld Journal: Birth Defects Res Date: 2020-04-22 Impact factor: 2.344