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Updated: Jun 20, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Craniofacial features in Goldenhar syndrome
C Vinay1, R Sudhakara Reddy, K S Uloopi
1Department of Pedodontics and Preventive Dentistry, Vishnu Dental College and Hospital, Bhimavaram - 534202, Andhra Pradesh, India. vinaychandrappa@yahoo.co.in
Goldenhar syndrome, a rare oculo-auriculo-vertebral condition, presents with craniofacial and vertebral anomalies. This case report details a 12-year-old male patient diagnosed with this sporadic disorder.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disorder.
- It is characterized by a spectrum of anomalies affecting the craniofacial region and vertebrae.
- The exact etiology remains largely unknown, and it typically occurs sporadically.
Observation:
- This report focuses on a 12-year-old male patient.
- The patient presented with typical craniofacial malformations associated with Goldenhar syndrome.
- Specific anomalies included mandibular hypoplasia, malar bone hypoplasia, and microtia.
Findings:
- The diagnosis of Goldenhar syndrome was confirmed in the pediatric patient.
- The case highlights the characteristic features of this rare disease entity.
- Vertebral anomalies, a key diagnostic criterion, were also noted.
Implications:
- This case contributes to the understanding of Goldenhar syndrome presentation in pediatric populations.
- Further research into the etiology of oculo-auriculo-vertebral spectrum is warranted.
- Accurate diagnosis and management of craniofacial and vertebral anomalies are crucial for affected individuals.
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