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.

Gestasyonel diyabet yenidoğan işitme kaybında bir risk faktörü müdür?

“…When we focus on studies of hearing loss from mothers with gestational diabetes, we notice different results. In a study by Ewart-Toland et al [15], nine of 27 children from diabetic mothers with craniofacial anomalies were found to have hearing loss. Mixed or sensorineural hearing loss was detected in 4 of these infants, while transmission type hearing loss was detected in 2 and unrecognized hearing loss in the remaining 3 infants [15].…”

Facial asymmetry and clinical manifestations in patients with novel insertion of theTCOF1gene

“…Multiple genes contribute to the wide phenotypic spectra of the first and second branchial arch syndromes that include facial asymmetries (6,7,(10)(11)(12)(24)(25)(26) and family members with the same mutation can exhibit distinct penetrance of the phenotype (2). Here, 6 of 12 patients diagnosed with HFM exhibited a novel frameshift mutation c. 4127 ins G in exon 24 in the TCOF1 gene.…”

Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia

“…A relationship between DM and microtia has been established in the literature (Correa et al 2008;Ewart-Toland et al 2000;Garne et al 2012;Mastroiacovo et al 1995b;Van Bennekom et al 2013) with the strength of the association ranging from 1.3 to 18.5. A summary of the results from previous work is presented in Table 4.…”