VACTERL association and maternal diabetes: a possible causal relationship?
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.


METHODS
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.
Castori
Marco
M
Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy. m.castori@idi.it
Rinaldi
Rosanna
R
Capocaccia
Paolo
P
Roggini
Mario
M
Grammatico
Paola
P
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D013577:Syndrome