Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report)

Area of Science:

• Medicine
• Genetics
• Orthopedics

Background:

• Hemifacial microsomia is a congenital disorder characterized by underdevelopment of one side of the face.
• Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, encompasses a range of developmental anomalies.
• Cervical vertebral anomalies can occur in conjunction with craniofacial and other developmental abnormalities.

Observation:

• A case report detailing hemifacial microsomia with significant cervical vertebral anomalies is presented.
• The patient exhibited unilateral mandibular hypoplasia, external ear anomalies, and cervical spine pathology.
• Specific cervical anomalies included fusion of C2-C3 vertebrae, atlantooccipital assimilation, and an atlas anterior cleft.

Findings:

• The observed combination of mandibular hypoplasia, ear anomalies, and cervical spine pathology aligns with major signs of Goldenhar syndrome.
• Detailed radiological findings revealed complete fusion of the bodies and spinous processes of the second and third cervical vertebrae.
• Further cervical anomalies included atlantooccipital assimilation and an anterior cleft of the atlas, all asymptomatic.

Implications:

• This case highlights the importance of recognizing the spectrum of anomalies associated with Goldenhar syndrome, even when asymptomatic.
• Accidental identification of severe cervical vertebral anomalies underscores the need for thorough evaluation in cases of hemifacial microsomia.
• Understanding these associations aids in comprehensive diagnosis and management planning for patients with craniofacial and vertebral developmental disorders.