Abstract
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. 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. 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 phe...Continue Reading
References
Apr 1, 1979·Diabetes·J L MillsA S Goldman
Jan 1, 1975·Archives of Environmental Health·A H Nora, J J Nora
Mar 1, 1986·American Journal of Diseases of Children·D D WeaverP L Yu
Mar 1, 1986·American Journal of Diseases of Children·G J HauserL W Young
Jun 1, 1982·Teratology·J L Mills
Feb 13, 1995·American Journal of Medical Genetics·M C DigilioA Giannotti
May 1, 1994·Journal of Medical Genetics·P Merlob, N Naor
Dec 16, 1997·American Journal of Obstetrics and Gynecology·U M SchaeferS L Kjos
Mar 17, 1999·American Journal of Medical Genetics·M L Martínez-Frías, J L Frías
Jul 19, 2001·Teratology·C A LoffredoC Ferencz
Apr 5, 2002·American Journal of Medical Genetics·M Michael Cohen, Kohei Shiota
Nov 1, 2002·The Journal of Pediatrics·Raymond WangJohn M Graham
Dec 28, 2002·American Journal of Medical Genetics·John M OpitzEnid Gilbert-Barness
May 26, 2004·Pediatric Clinics of North America·Joan L Nold, Michael K Georgieff
Sep 1, 2005·Congenital Anomalies·Shoichi Akazawa
Citations
Jan 28, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Sun-Young AhnVivian Reznik
Aug 19, 2011·Orphanet Journal of Rare Diseases·Benjamin D Solomon
Apr 29, 2010·Current Gastroenterology Reports·Elisabeth M de JongDick Tibboel
Mar 1, 2013·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·Z Kokrdova
Mar 24, 2010·Seminars in Pediatric Surgery·Erin Mundt, Michael D Bates
Mar 1, 2012·Birth Defects Research. Part A, Clinical and Molecular Teratology·Ester GarneAwi Wiesel
Oct 18, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Iêda M OrioliEduardo E Castilla
Jun 29, 2010·American Journal of Medical Genetics. Part a·Marco CastoriPaola Grammatico
May 27, 2010·American Journal of Medical Genetics. Part a·Nurullah OkumusSerdar Ceylaner
Jun 17, 2014·European Journal of Medical Genetics·Erwin BrosensAnnelies de Klein
Jul 16, 2014·European Journal of Medical Genetics·Jacopo Celli
Oct 6, 2010·Journal of Pediatric Surgery·Jenny OddsbergJesper Lagergren
Apr 17, 2016·Journal of Medical Genetics·Yixin ChenZhihong Wu
Aug 3, 2010·São Paulo Medical Journal = Revista Paulista De Medicina·Pricila BernardiGiorgio Adriano Paskulin
Jul 11, 2009·The Journal of Bone and Joint Surgery. American Volume·Esther de Graaff, Scott H Kozin
Aug 29, 2018·American Journal of Medical Genetics. Part a·Majid HusainVirginia Kimonis
Jan 10, 2009·The Journal of Rheumatology·John D CarterFrank B Vasey
Jul 11, 2020·American Journal of Medical Genetics. Part a·Kitiwan RojnueangnitNatini Jinawath
Apr 7, 2020·American Journal of Medical Genetics. Part a·Carolina I GalarretaLynne M Bird
Dec 24, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Benjamin D Solomon
Apr 23, 2020·Birth Defects Research·Romy van de PutteNel Roeleveld
Sep 3, 2020·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Zehuan DingLinglin Xie
Feb 23, 2021·Birth Defects Research·Ji Hyun Ahn, Hee Joung Choi