Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

Abstract

Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. Purpose To investigate the ear abnormalities of a sample of patients with OAVS. Materials and methods The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. Results Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n=12), middle (n=10) and inner ear (n=3). Microtia was the most frequent finding (n=12). The most common abnormalities of the middle ear were: opacification (n=2), displacement (n=2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n=2) was the most frequent alteration of the inner ear. Conclusions Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.

Craniofacial abnormalities in goldenhar syndrome: a case report with review of the literature

“…[7] Microtia and other minor ear malformations such as preauricular appendages and pits, either alone or in combination, are viewed as one of the minimal criteria for diagnosing this syndrome. [18,23,26,27] Our patient had only minor ear abnormalities consisting of two preauricular tags, and this was a unilateral finding. He has not suffered any hearing disturbances or facial nerve dysfunction.…”

“…Bilateral [14] 3 Anopthalmos/micropthalmos [15,16,24,25] 10-53 Strabismus/nystagmus [4,24] Duane retraction syndrome [14,24] Decreased corneal sensation [4,14,16] Cataract and iris abnormalities [4,15,16] Neuroparalytic keratitis Dacryostenosis [24] Proptosis [16] Auricular abnormalities [20,23,25,26] 82-100 External ear [20,26] 82-100 Preauricular appendages and pits [19,25,26] 53-90 Bilateral [14] 30 Ear abnormalities Microtia [25,26] 50-100 Bilateral [26] 18-50 Anotia [25] 16.60 Atresia of outer ear canal Stenosis of outer ear canal Middle ear [18,26] 67-75 Incomplete development of the tympanic cavity Opacifi ed middle ear Agenesis of the middle ear Hypoplasic/agenesis of the tympanic cleft Hypoplastic/displaced ossicular chain Widened or decreased tympanic cavity …”

“…Absence of the tympanic tensor muscle Inner ear [18,26] 27-36 Hypoplastic inner ear Agenesis of the inner ear canal Altered cochlear morphology Altered semicircular canal Absence of the cochlear aqueduct Absent/abnormally coursing facial nerve canal Duplicated inner ear canal Displaced endolymphatic duct Conductive and sensorineural hearing defi cit [3,15,16,23] …”

Ectopic external auditory canal and ossicular formation in the oculo-auriculo-vertebral spectrum

“…Typical middle ear anomalies include hypoplasia or aplasia of the middle ear cavity and rudimentary or malformed ossicles. These external and middle ear abnormalities are typically reported in the expected anatomical locations [1,2].…”

“…OAVS may also affect the heart, lungs, kidneys and central nervous system. The underlying cause of the condition remains unknown [1][2][3].…”