Oculoauriculovertebral abnormalities in children of diabetic mothers.

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.

Compliance with childhood cholesterol screening among members of a prepaid health plan.

OBJECTIVE: To assess compliance with cholesterol screening and intervention by children who were members of a prepaid health plan in which there was no financial barrier to intervention. RESEARCH DESIGN: Children with family histories of hypercholesterolemia, coronary heart disease, and stroke were advised to have a random cholesterol test. Those with total cholesterol levels of 4.80 mmol/L (185 mg/dL) or higher were asked to return for a fasting blood test; of this group, compliant subjects with low-density lipoprotein values of 3.25 mmol/L (125 mg/dL) or higher were offered a nutrition program. SETTING: Kaiser Permanente Medical Center, Oakland, Calif. SUBJECTS AND PARTICIPANTS: The parents of 1160 children aged 2 to 18 years who had routine pediatric appointments at Kaiser Permanente Medical Center were asked to complete screening forms on family history. SELECTION PROCEDURES: Children with family histories of hypercholesterolemia, coronary heart disease, and stroke were advised to have a random cholesterol test. Subjects with total cholesterol levels of 4.80 mmol/L or higher were asked to return for a fasting test, and subjects with low-density lipoprotein levels of 3.25 mmol/L or higher were offered a nutrition program. INTERVENTIONS: Telephone call, letter, low-cholesterol diet, and nutrition program. MAIN OUTCOME MEASURES: Of the 1,160 subjects contacted, 529 (46%) had positive family histories. Of these subjects, random blood cholesterol levels were determined for 369 (70%); 160 (30%) did not comply. Ninety-three subjects had total cholesterol levels of 4.80 mmol/L or higher; of these, 35 (38%) did not comply with follow-up testing. Of the 58 compliant subjects, 25 (43%) had low-density lipoprotein values of 3.25 mmol/L or higher and were offered either a 3-week or a 6-week nutrition program. Only nine subjects (36%) enrolled; 16 (64%) did not comply. CONCLUSIONS: Parents do not comply well with a childhood cholesterol screening program that involves two blood tests and moderately intensive educational intervention. Compliance is an important component of cholesterol screening and intervention.