Goldenhar Syndrome



  • © 2018 Elsevier Inc. All rights reserved. The primary characteristic of Goldenhar is hemifacial macrosomia/facial asymmetry. The syndrome is likely sporadic, although more recently genetic loci and teratogenic exposures have been reported as likely etiologies. It originates in a defect in the development of the first and second branchial arches. Other common characteristics include microtia, asymmetric mandible hypoplasia, epibulbar dermoids, microophthalmia, periauricular/preauricular tags, and cervical vertebrae anomalies (hemivertebrae). These associated anomalies are most often unilateral but can be bilateral with a more severely affected side. Genetic testing is not currently available for this condition and it remains a clinical diagnosis. Recurrence risk is dependent on etiology. This could range from not increased (general population risk) to up to 50% (autosomal dominant cases).
  • Authors

    Digital Object Identifier (doi)

    International Standard Book Number (isbn) 13

  • 9780323445481
  • Start Page

  • 552
  • End Page

  • 554.e1