Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Goldenhar's Syndrome.

Ozcan Ozdemir1, Kemal Arda, Hasan Turhan

  • 1Department of Cardiology Türkiye Yüksek Ihtisas HospitalAnkara, Turkey.

Asian Cardiovascular & Thoracic Annals
|September 6, 2002
PubMed
Summary

Goldenhar syndrome, a congenital condition, was diagnosed in a pediatric patient. This case highlights rare associations including polydactyly and potential autosomal dominant inheritance patterns.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Dynamic Behavior of Left Atrial Low-Voltage Areas in Persistent Atrial Fibrillation: Implications for Substrate-Guided Ablation.

Journal of cardiovascular electrophysiology·2026
Same author

Body Roundness Index as a Predictor of Electrical Cardioversion Failure in Patients With Persistent Atrial Fibrillation.

Pacing and clinical electrophysiology : PACE·2026
Same author

Comparative impact of body shape index and body mass index on heart rate variability in healthy young adults: A 24-hour electrocardiographic analysis.

Irish journal of medical science·2026
Same author

Venous Septal Alcohol Ablation as a Salvage Strategy in Obstructive Hypertrophic Cardiomyopathy.

JACC. Case reports·2026
Same author

Palmar cortical ridges on hand CT: Normal but misleading cortical adaptations and a potential diagnostic pitfall.

European journal of radiology·2026
Same author

Comparison of diode laser and sonic activation in the removal of root canal filling material from curved canals: an in-vitro study.

BMC oral health·2026

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Medicine

Background:

  • Goldenhar syndrome, also known as oculoauriculovertebral spectrum, is a rare congenital disorder.
  • It typically affects facial structures, the spine, and the eyes.
  • Associated anomalies can vary widely among affected individuals.

Observation:

  • A 12-year-old male presented with multiple congenital anomalies.
  • Clinical features included postaxial polydactyly of the right hand, congenital heart disease, vertebral anomaly, and facial asymmetry.
  • These findings prompted further investigation into the underlying diagnosis.

Findings:

  • Diagnostic investigations confirmed Goldenhar syndrome in the patient.
  • The case presented with rare co-occurrences of polydactyly and congenital heart disease.
  • Evidence suggested a probable autosomal dominant mode of inheritance for this presentation.

Implications:

  • This case expands the known spectrum of anomalies associated with Goldenhar syndrome.
  • Understanding rare presentations is crucial for accurate diagnosis and genetic counseling.
  • Further research into the genetic underpinnings of Goldenhar syndrome and its variants is warranted.

Related Experiment Videos