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Goldenhar syndrome.

Neeraj Sharma1, Sidhi Passi

  • 1Department of Pedodontia, Dr. Harvansh Singh Judge Institute of Dental Sciences, Punjab University, Chandigarh, India.

Indian Journal of Dental Research : Official Publication of Indian Society for Dental Research
|July 16, 2013
PubMed
Summary
This summary is machine-generated.

Goldenhar syndrome, a rare congenital disorder affecting first and second branchial arch development, presents with diverse symptoms. This case highlights unique features including condyle absence and bifid tongue.

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Area of Science:

  • Developmental biology
  • Craniofacial anomalies
  • Genetics

Background:

  • Goldenhar syndrome involves malformations of structures derived from the first and second branchial arches.
  • The exact genetic causes and etiology of this rare condition remain largely unknown.
  • Symptoms exhibit significant variability in presentation and severity.

Observation:

  • A unique case of Goldenhar syndrome is presented.
  • Key features include: absence of the left condyle, zygomatic bone hypoplasia, absent mastoid process pneumatization, underdeveloped mandible, bifid tongue, and preauricular skin tags.

Findings:

  • This case illustrates a rare combination of craniofacial and developmental abnormalities.
  • Highlights the spectrum of physical manifestations in Goldenhar syndrome.
  • Demonstrates the complexity of first and second branchial arch development.

Implications:

  • Contributes to understanding the phenotypic variability of Goldenhar syndrome.
  • May aid in improved diagnosis and management strategies for affected individuals.
  • Underscores the need for further research into the genetic and developmental underpinnings of this syndrome.