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Goldenhar syndrome with unusual features
1Department of Pediatrics, Institute of Maternal & Child Health, Medical College, Calicut - 673 008, India.
Indian Journal of Dermatology, Venereology and Leprology
|October 6, 2010
Summary
This study details two Goldenhar syndrome cases with bilateral eye and ear abnormalities. One patient also presented with hypertelorism, macrophthalmia, and a bulbous nose, highlighting syndrome variability.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
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 spine.
Purpose of the Study:
- To report two cases of Goldenhar syndrome with specific clinical presentations.
- To highlight the spectrum of ocular and auricular changes in Goldenhar syndrome.
Main Methods:
- Case report methodology.
- Clinical observation and documentation of patient phenotypes.
Main Results:
- Two patients diagnosed with Goldenhar syndrome were identified.
- Both patients exhibited bilateral ocular and auricular anomalies.
- One patient presented with additional features including hypertelorism, macrophthalmia, and a bulbous nose.
Conclusions:
- Goldenhar syndrome presents with diverse ocular and auricular manifestations.
- The observed additional facial anomalies in one case underscore the syndrome's variable expressivity.
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