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Related Experiment Videos

Goldenhar's syndrome.

M Feingold, J Baum

    American Journal of Diseases of Children (1960)
    |February 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    This report details 16 Goldenhar syndrome cases, defined by eye and associated anomalies. Differentiating Goldenhar syndrome from hemifacial microsomia presents diagnostic challenges.

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    Area of Science:

    • Ophthalmology
    • Genetics
    • Craniofacial Anomalies

    Background:

    • Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disorder.
    • It is characterized by craniofacial abnormalities, particularly affecting the eyes, ears, and jaw.
    • Distinguishing Goldenhar syndrome from similar conditions like Treacher Collins syndrome and hemifacial microsomia is crucial for accurate diagnosis and management.

    Purpose of the Study:

    • To report on a cohort of 16 patients diagnosed with Goldenhar syndrome.
    • To outline the diagnostic criteria used for Goldenhar syndrome in this study.
    • To discuss the diagnostic challenges, particularly in differentiating Goldenhar syndrome from hemifacial microsomia.

    Main Methods:

    • Retrospective review of 16 patients diagnosed with Goldenhar syndrome.

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  • Application of specific diagnostic criteria: an eye abnormality (e.g., epibulbar dermoid) plus two of three other anomalies (ear, mandibular, vertebral).
  • Clinical comparison with Treacher Collins syndrome and hemifacial microsomia.

    • Main Results:

    • A cohort of 16 patients with Goldenhar syndrome was analyzed.
    • The established diagnostic criteria were applied to all patients.
    • Difficulties in differentiating Goldenhar syndrome from hemifacial microsomia were noted, unlike the clearer distinction from Treacher Collins syndrome.

    Conclusions:

    • Goldenhar syndrome diagnosis requires specific ocular and associated anomalies.
    • While Treacher Collins syndrome is distinct, differentiating Goldenhar syndrome from hemifacial microsomia remains a clinical challenge.
    • Further research may be needed to refine diagnostic criteria for overlapping craniofacial conditions.