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Related Experiment Videos

Goldenhar's syndrome--case report.

Antônio Luiz Barbosa Pinheiro1, Luciana Cavalcanti Araújo, Suely Baptista Oliveira

  • 1Laser Center, School of Dentistry, Federal University of Bahia (UFBA), Salvador, BA, Brazil. albp@ufba.br

Brazilian Dental Journal
|March 27, 2003
PubMed
Summary
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Goldenhar

Area of Science:

  • Genetics and Developmental Biology
  • Medical Genetics
  • Pediatric Medicine

Background:

  • Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare congenital disorder.
  • Characterized by anomalies affecting the eyes, ears, and vertebrae.
  • Etiology is complex and not fully understood, with variable genetic factors.

Observation:

  • Presents a case study of an 11-year-old female with Goldenhar syndrome.
  • The patient exhibited classical signs of the condition.
  • Detailed clinical presentation of the syndrome's manifestations.

Findings:

  • Confirmation of classical Goldenhar syndrome features in the reported case.
  • Highlights the diagnostic criteria and phenotypic variability.

Related Experiment Videos

  • Case report contributes to understanding the spectrum of OAV dysplasia.

    • Implications:

    • Enhances understanding of Goldenhar syndrome's clinical presentation.
    • Provides insights into the management of rare genetic disorders.
    • Case study aids in differential diagnosis for similar craniofacial anomalies.