Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia

Abstract

Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.

Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature

“…CNS involvement has been described in OAVS, and frequencies range between 2% and 69%, 7 including brain atrophy, hypoplasia of the cerebellum, corpus callosum dysgenesis, asymmetric lateral ventricles, and aqueductal stenosis with obstructive hydrocephalus, cerebral lipomas, and cerebral hamartomas. 6,7,9,10…”

“…However, syringomyelia, meningocele with occipital cranium bifidum, and a defective arch of C1 as well as spina bifida cystica and occulta have been described 7,11121314,16,17 with a prevalence of 1% to 31%. 9,10,17…”

Hearing Impairment In Oculoauriculovertebral Dysplasia (Goldenhar Syndrome): Literature Review

“…The motive for including them all in the materials for this analysis was the widespread presence of damage to the hearing organ. A review of the available literature covering the last 20 years has shown that virtually in all patients with Goldenhar syndrome a group of persistent irregularities can be identified: various degrees of hypoplasia of the pinna (microtia, anotia) co-existing with the stenosis or absence (atresia) of the external auditory canal [1,3,15,16]. Other anatomical disorders of the auditory organ described in the literature include preauricular outgrowths, hypoplasia of the tympanic membrane, hypoplasia of the tympanic cavity, hypoplasia and lack of auditory ossicles, improper course of the facial nerve, lack of tensor tympani muscle, lack of chorda tympani, lack of oval and round windows, cochlear hypoplasia, underdevelopment or lack of semicircular canals, enlargement of the vestibular aqueduct, and internal auditory canal defects [17][18].…”

“…The degree of structural disorder differs in each patient: in some the changes are discrete and limited to the external ear, in others they also include the middle and inner ear. As foreshadowed, craniofacial defects most often affect one side only, with bilateral defects being much less frequent [16]. In unilateral cases, the severity of facial hypoplasia is less and the level of hearing loss is asymmetrical.…”

Achados audiológicos e malformações auriculares no espectro oculoauriculovertebral

“…Na literatura consultada, alguns trabalhos anteriormente realizados (HEIKE et al, 2016;MITCHELL et al, 2016;PEGLER et al, 2016;CARON et al, 2017), anteriormente realizados, mostraram a alta ocorrência de malformações auriculares nos pacientes com EOAV, semelhante a presente investigação, na qual esses achados clínicos foram frequentes. Pesquisa conduzida por Pittoli (2010) na mesma instituição desse estudo, com casos de anomalias de 1º e 2º arcos faríngeos, também mostrou que a maioria deles apresentavam malformação de orelha externa.…”