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Goldenhar syndrome with unusual features
Bijal Mehta1, Chitra Nayak, Shankar Savant
1Department of Dermatology, T.N. Medical College and B.Y.L. Nair Ch. Hospital, Mumbai Central, Mumbai-400 008, India. mehta_bijal@rediffmail.com
Indian Journal of Dermatology, Venereology and Leprology
|June 28, 2008
Summary
This case study details a 17-year-old girl with Goldenhar syndrome, presenting classic symptoms and previously unreported oral and dental anomalies. The findings highlight the diverse manifestations of this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), is a rare congenital disorder characterized by craniofacial abnormalities.
- The syndrome typically involves the eyes, ears, and spine, with varying degrees of severity and associated anomalies.
Observation:
- A 17-year-old female presented with classic features of Goldenhar syndrome.
- These included multiple accessory tragi, bilateral ocular dermoids, mandibular hypoplasia (micrognathia), and cervical lordosis.
- Additionally, she exhibited a high arched palate, gingival hypertrophy, and malaligned teeth, which are not commonly reported in existing literature.
Findings:
- The patient displayed a comprehensive set of Goldenhar syndrome manifestations.
- The presence of high arched palate, gingival hypertrophy, and malaligned teeth represents novel findings for this condition.
- This case expands the known phenotypic spectrum of Goldenhar syndrome.
Implications:
- This case underscores the importance of thorough clinical examination in diagnosing Goldenhar syndrome.
- Recognizing the full spectrum of anomalies, including unreported oral and dental features, is crucial for comprehensive patient management.
- Further research into the genetic and developmental pathways of Goldenhar syndrome may elucidate the etiology of these diverse presentations.
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