Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement

Area of Science:

• Medical Imaging
• Genetics
• Craniofacial Abnormalities

Background:

• Oculo-auriculo-vertebral spectrum (OAVS) patients may present with abnormalities in cranial structures not embryologically linked to the first and second pharyngeal arches.
• This study focuses on neuroimaging to identify and characterize these intracranial vascular, bone, and brain anomalies.

Purpose of the Study:

• To investigate the types and frequency of intracranial vascular, bone, and brain abnormalities in patients with OAVS.
• To explore correlations between these anomalies and clinical phenotypes, including Goldenhar syndrome and cranial nerve involvement.

Main Methods:

• Neuroimaging analysis of 35 OAVS patients (mean age 4.8 years) using head CT (100%) and brain MRI (91%).
• Specific focus on internal carotid arteries, brain structures, cochlear-vestibular system, facial nerve canals, and oval windows.
• Phenotypic data, including Goldenhar syndrome and cranial nerve status, were correlated with imaging findings.

Main Results:

• Internal carotid artery anomalies were found in 26% of patients.
• Brain abnormalities were present in 56% of patients undergoing MRI, associated with Goldenhar syndrome and cranial nerve issues.
• Cochlear-vestibular abnormalities (31%) and facial nerve bony canal anomalies (46%) were linked to Goldenhar syndrome and cranial nerve involvement.
• Oval window atresia occurred in 74% of patients, often with ossicular chain dysplasia.

Conclusions:

• Intracranial vascular, bone, and brain abnormalities are frequent and diverse in OAVS patients.
• Accurate neuroimaging is crucial for the diagnostic work-up of OAVS, potentially influencing clinical and surgical management.