Audiological and clinical management of children with oculo-auriculo-vertebral spectrum

Abstract

Oculo-auriculo-vertebral spectrum is a rare, heterogeneous congenital condition, of unknown aetiology, mainly involving the ear (microtia) and jaw (hemifacial microsomia). In addition to those structures originating from the first and second pharyngeal arches, multiple systems can be affected.

ENT specialists and audiologists may focus their attention on the microtia and its effect on the hearing capacity of the child, but it may be only a sign of a more complex spectrum of abnormalities. A complete study of auditory function is crucial, but not exclusively. Proper management would consider the neuroradiological study not only of the whole hearing organ, but also of the cranial nerves, soft tissues and craniofacial structures. A geneticist should investigate the family history in order to identify a specific pattern of inheritance. A maxillofacial surgeon and orthodontic assessment may be appropriate when patients present with hemifacial microsomia; an ophthalmological evaluation should be considered when ocular impairment is evident or suspected.

A total body examination is crucial to disclose abnormalities involving other organs or systems. If further malformations are suspected, then additional radiological investigation and a specialist examination may be warranted.

Key words::

• oculo-auriculo-vertebral spectrum
• Goldenhar syndrome
• microtia
• hemifacial microsomia

Declaration of interest: The authors have no conflicts of interest to disclose.