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Atypical goldenhar syndrome: a case report
Ashok Kumar Jena1, Ritu Duggal
1Dept. of Orthodontics & Dentofacial Orthopedics, RAMA Dental College, Hospital & Research Centre, Lakhanpur, Kanpur-208024, India. ashokkjena@yahoo.co.in
The Journal of Clinical Pediatric Dentistry
|February 24, 2007
Summary
This report details an atypical case of Goldenhar syndrome, a rare congenital disorder. Unique findings include complex odontomes and brain abnormalities, expanding the known spectrum of this condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Craniofacial Anomalies
Background:
- Goldenhar syndrome, also known as oculoauriculovertebral spectrum (OAVS), is a congenital disorder characterized by craniofacial abnormalities.
- Typical features include hemifacial microsomia, vertebral defects, and epibulbar dermoids.
- This case presents an unusual manifestation, highlighting the variability of OAVS.
Observation:
- A patient presented with classic Goldenhar syndrome features: facial asymmetry, skin tags, limbal dermoids, and posteriorly angulated ear.
- An atypical intraoral finding of unilateral complex odontomes was observed.
- Cerebral examination revealed left hemisphere hypotrophy with calcifications in the occipital and parietal regions.
Findings:
- The patient exhibited a unique combination of external, intraoral, and neurological anomalies.
- The presence of multiple complex odontomes is a rare intraoral manifestation in Goldenhar syndrome.
- Associated brain abnormalities, including hemispheric hypotrophy and calcifications, represent significant atypical findings.
Implications:
- This case expands the phenotypic spectrum of Goldenhar syndrome, particularly regarding intraoral and neurological involvement.
- Understanding these atypical features is crucial for comprehensive diagnosis and management of affected individuals.
- Further research into the genetic and developmental pathways underlying these variations in OAVS is warranted.
