Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes

Abstract

Axial mesodermal dysplasia spectrum (AMDS) includes the features of other malformation complexes or sequences, such as oculo-auriculo-vertebral spectrum (OAVS) and sacral dysgenesis. We describe a new patient, an infant born to a type 1 diabetic mother, with the phenotype of AMDS as well as severe congenital cardiac anomalies including transposition of the great arteries and an atrioventricular septal defect. Congenital heart defects had been reported with OAVS, sacral dysgenesis, and in an infant born to a diabetic mother and combinations of these findings have been reported in the same patient. To our knowledge, this is the first patient with AMDS with transposition of great arteries and an atrioventricular septal defect and the second patient with AMDS who had history of parental consanguinity. The mechanism through which maternal diabetes mellitus leads to malformations is not entirely clear, but the glycemic control is essential in the care of mothers.