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Goldenhar's syndrome--a case report

A Singh1, G Malhotra, G P Singh

  • 1Department of Plastic and Reconstructive Surgery, Government Medical College, Rajendra Hospital, Punjab, India.

Acta Chirurgiae Plasticae
|January 1, 1994
PubMed
Summary
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This case study presents Goldenhar syndrome in an infant, highlighting multiple congenital anomalies including facial clefts and epibulbar dermoid. The study reviews the syndrome

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Ophthalmology

Background:

  • Goldenhar syndrome, also known as oculoauriculovertebral spectrum, is a rare congenital disorder.
  • It is characterized by craniofacial abnormalities, vertebral defects, and sometimes limb malformations.

Observation:

  • A three-month-old male infant presented with a complex set of Goldenhar syndrome features.
  • Observed anomalies included an epibulbar dermoid, accessory auricular appendages, a transverse facial cleft, and a pedunculated cheek mass.
  • Additional findings were skull asymmetry and a history of imperforate anus repair.

Findings:

  • The case illustrates the diverse and severe phenotypic variability within Goldenhar syndrome.
  • The combination of epibulbar dermoid and other craniofacial anomalies underscores the developmental field defect theory.

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  • Surgical intervention for imperforate anus was noted, indicating early management of associated defects.

    • Implications:

    • This case contributes to the understanding of Goldenhar syndrome's clinical spectrum and genetic underpinnings.
    • Early diagnosis and multidisciplinary management are crucial for affected infants.
    • Further research into the aetiopathogenesis of Goldenhar syndrome is warranted to improve patient outcomes.