Oculouriculovertebral abnormalities in children of diabetic mothers

Maternal diabetes is known to have teratogenic effects. Malformations inclu ding neural tube defects, caudal dysgenesis, vertebral::defects, congenital heart defects, femoral: hypoplasia, and renal anomalies are described in i nfants of diabetic mothers. However, craniofacial anomalies have rarely bee n reported in such infants. Here we document craniofacial anomalies of pati ents born to diabetic mothers. We describe two patient populations: individ uals evaluated through our genetics services for multiple malformations and individuals identified-through a database search in our craniofacial clini c. The first group consists of 14 individuals evaluated in our genetics cli nics who were born to diabetic mothers and had:craniofacial anomalies. The second group consists of seven individuals who were identified from a crani ofacial 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%), ep ibulbar dermoids (24%), and fused cervical vertebrae (24%). Therefore, the teratogenic: effects of maternal diabetes probably include such craniofacia l malformations as the oculoauriculovertebral/Goldenhar complex. infants of diabetic mothers should be evaluated for craniofacial anomalies. Conversel y, mothers of infants with craniofacial anomalies should be evaluated for d iabetes to: aid in counseling concerning cause and recurrence risks. (C) 20 00 Wiley-Liss, Inc.