Oculoauriculovertebral abnormalities in children of diabetic mothers

Abstract

Maternal diabetes is known to have teratogenic effects. Malformations including neural tube defects, caudal dysgenesis, vertebral defects, congenital heart defects, femoral hypoplasia, and renal anomalies are described in infants of diabetic mothers. However, craniofacial anomalies have rarely been reported in such infants. Here we document craniofacial anomalies of patients born to diabetic mothers. We describe two patient populations: individuals evaluated through our genetics services for multiple malformations and individuals identified through a database search in our craniofacial clinic. The first group consists of 14 individuals evaluated in our genetics clinics who were born to diabetic mothers and had craniofacial anomalies. The second group consists of seven individuals who were identified from a craniofacial database search of patients with hemifacial microsomia and who were born to diabetic mothers. Thus, both groups were born to diabetic mothers and had hemifacial microsomia (67%), microtia (52%), hearing loss (43%), epibulbar dermoids (24%), and fused cervical vertebrae (24%). Therefore, the teratogenic effects of maternal diabetes probably include such craniofacial malformations as the oculoauriculovertebral/Goldenhar complex. Infants of diabetic mothers should be evaluated for craniofacial anomalies. Conversely, mothers of infants with craniofacial anomalies should be evaluated for diabetes to aid in counseling concerning cause and recurrence risks.

Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature

“…The high occurrence of structural inner ear malformation and sensorioneural hearing loss, observed in these patients, show that these findings are particular clinical signs of the OAVS with radial defects. Taking into account that some few cases with OAVS and radial defects were reported in mothers with a history of diabetes 21,23 and that pregnant women with pre-existing or gestational diabetes have a higher risk of giving birth to a child with malformations, 43 special attention should be paid to maternal glicemia. Our study suggests that we are dealing with a new condition within the OAVS, however, molecular analysis of SALL1 and SALL4, to exclude TBS and Okihiro syndrome is essential to clarify this point.…”

Reduction in diabetes‐induced craniofacial defects by maternal immune stimulation

“…The incidence of birth defects in newborns of diabetic women (Type 1 and Type 2) is approximately 3-5 times higher than among nondiabetics (Ewart-Toland et al, 2000). Defects include abnormalities in neural tube closure; and alterations in facial, cardiac, renal, optic and auricular development.…”

Microsomía hemifacial. Revisión de la literatura

“…Dentro de las causas ambientales, se han observado diversos factores de riesgo asociados a su presencia durante el embarazo, como el consumo de medicamentos vasoactivos, 10 sangrado vaginal durante el segundo trimestre, gestaciones múltiples, 11 el uso materno de tecnología reproductiva asistida 12 y diabetes preexistente o gestacional. 13,14 M. Werler ha publicado distintos estudios sobre la relación entre MHF y el consumo de drogas vasoactivas por la madre durante el embarazo. Uno de ellos es un estudio retrospectivo de casos y controles, en el que se analizaron diversos factores a los que estaba expuesta la madre durante el embarazo, entre ellos drogas vasoactivas como la pseudoefedrina, la fenilpropanolamina, le aspirina y el ibuprofeno.…”

“…Within the environmental causes, there are various risk factors associated with its presence during pregnancy, such as vasoactive medications, 10 vaginal bleeding during the second quarter, multiple gestations, 11 use of assisted reproductive technology by the mother 12 and preexisting or gestational diabetes. 13,14 M. Werler has published several studies on the relationship between HFM and the consumption of vasoactive drugs by the mother during pregnancy. One of them is a retrospective study of cases and controls discussing several factors to which the mother is exposed to during pregnancy, including vasoactive drugs such as pseudoephedrine, phenylpropanolamine, aspirin, and ibuprofen.…”