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Oculoauriculovertebral abnormalities in children of diabetic mothers

A Ewart-Toland1, J Yankowitz, A Winder

  • 1Department of Pediatrics, University of California, San Francisco 94143, USA.

American Journal of Medical Genetics
|March 10, 2000
PubMed

Insights

Maternal diabetes can cause craniofacial anomalies, including hemifacial microsomia and microtia. Infants born to diabetic mothers should be screened for these birth defects.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Teratology

Background:

  • Maternal diabetes is a known teratogen, linked to various birth defects.
  • Craniofacial anomalies are rarely reported in infants of diabetic mothers.
  • This study investigates the association between maternal diabetes and craniofacial malformations.

Purpose of the Study:

  • To document and characterize craniofacial anomalies in infants born to diabetic mothers.
  • To determine if maternal diabetes contributes to specific craniofacial malformations.
  • To inform clinical evaluation and genetic counseling for affected families.

Main Methods:

  • Retrospective review of two patient cohorts: genetics clinic patients with malformations and craniofacial clinic patients.
  • Analysis of individuals born to diabetic mothers with documented craniofacial anomalies.
  • Detailed phenotyping including hemifacial microsomia, microtia, hearing loss, epibulbar dermoids, and cervical vertebrae fusion.

Main Results:

  • A total of 21 patients born to diabetic mothers with craniofacial anomalies were identified.
  • High prevalence of hemifacial microsomia (67%), microtia (52%), and hearing loss (43%) observed.
  • Other anomalies included epibulbar dermoids (24%) and fused cervical vertebrae (24%).

Conclusions:

  • Maternal diabetes teratogenicity likely extends to craniofacial malformations, such as the oculoauriculovertebral/Goldenhar complex.
  • Infants of diabetic mothers require evaluation for craniofacial anomalies.
  • Maternal diabetes screening is recommended for infants with craniofacial anomalies to assess risks.

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