Case reports of malformations associated with maternal diabetes: history and critique

Abstract

Several malformations and malformation complexes have been alleged to be associated with maternal type 1 diabetes mellitus: in particular, sacral dysplasia, caudal regression/sirenomelia, femoral dysplasia, and holoprosencephaly. For some of the malformations the claim rests on case material, and for others on theoretical considerations. The history and evolution of these ideas are presented.

Caudal Regression Syndrome in Twin Pregnancy With Type II Diabetes

“…1 In addition, various other malformations, vertebral and non-vertebral, have occasionally been reported to be associated with the complex. The causation of this rare condition is not clear and has been attributed to environmental factors and/or to an underlying genetic predisposition.…”

Diabetic Embryopathy in C57BL/6J Mice

“…Maternal diabetes has the potential to adversely affect the development of multiple organ systems, resulting in a wide range of congenital malformations. Thus, it is unlikely that a specific pattern of malformations can be attributed to embryonic effects of the maternal diabetic state (4,5). Generally, however, the birth defects most commonly associated with maternal diabetes are caudal regression, situs inversus, kidney malformations, cardiac anomalies, and neural tube defects (NTDs) (6,7).…”

Síndrome de Regresión Caudal: Caso Clínico

“…El síndrome de regresión caudal (SRC), también conocido como secuencia de displasia caudal (SDC), es una anomalía congénita severa poco frecuente, caracterizada por la agenesia de extensión variable de los cuerpos vertebrales distales (sacrococcígeos o lumbosacrococcígeos), que se asocia frecuentemente a otras malformaciones musculoesqueléticas de la pelvis y extremidades inferiores 8,19 . De forma paralela, existen reportes de asociación conjunta con malformaciones viscerales, dentro de las cuales destacan alteraciones de los sistemas genitourinario, gastrointestinal, neurológico y cardíaco 3 .…”