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Huntington Disease l: Introduction01:21

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Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
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[Goldenhar's syndrome--case report].

Ewa Poppe1, Krzysztof Bandzul, Katrzyna Komaszyło-Spalińska

  • 1Oddział Okulistyczny Szpitala Wojewódzkiego w Łomzy. okulistyka.lomza@gmail.com

Klinika Oczna
|July 13, 2012
PubMed
Summary

Goldenhar syndrome, a rare developmental disorder, can cause anophthalmia (absent eye). This case study presents anophthalmia in a newborn with Goldenhar syndrome, highlighting a severe ocular manifestation.

Area of Science:

  • Ophthalmology
  • Genetics
  • Developmental Biology

Background:

  • Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disorder characterized by craniofacial, vertebral, and ocular anomalies.
  • Ocular manifestations in Goldenhar syndrome typically include microphthalmia (small eye) or anophthalmia (absent eye), eyelid colobomas, and optic nerve abnormalities.

Observation:

  • This article details a case of a newborn diagnosed with Goldenhar syndrome.
  • The newborn presented with a severe ophthalmological abnormality: anophthalmia, the complete absence of one or both eyes.

Findings:

  • The case confirms anophthalmia as a significant, albeit rare, ocular finding in newborns with Goldenhar syndrome.
  • This presentation underscores the variability and potential severity of ocular defects within the oculo-auriculo-vertebral spectrum.

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Last Updated: May 20, 2026

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
02:22

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Published on: April 12, 2024

Implications:

  • Early recognition of ocular anomalies like anophthalmia is crucial for timely intervention and management in infants with Goldenhar syndrome.
  • This case contributes to the understanding of the phenotypic spectrum of Goldenhar syndrome and emphasizes the importance of comprehensive ophthalmological evaluations in affected newborns.