Oculoauriculovertebral spectrum with radial anomaly in child

Taksande, Amar; Vilhekar, Krishna

doi:10.4103/2249-4863.109966

Cited by 4 publications

(2 citation statements)

References 9 publications

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“…The patient showed microtia and high-set right ear. 4 The patient's auditory evaluation revealed a moderate mixed hearing loss on the right ear and mild sensorineural hearing loss on the left ear. In addition to that, she also presented speech anomalies such as phonological disorders.…”

Section: Discussionmentioning

confidence: 98%

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Audiological Findings in Patients with Oculo-Auriculo-Vertebral Spectrum

Sleifer

Gorsky

Goetze

et al. 2014

Int. Arch. Otorhinolaryngol.

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Introduction Oculo-auriculo-vertebral spectrum, also referred to as Goldenhar syndrome, is a condition characterized by alterations involving the development of the structures of the first and second branchial arches. The abnormalities primarily affect the face, the eyes, the spine, and the ears, and the auricular abnormalities are associated with possible hearing loss. Objective To analyze the audiological findings of patients with oculo-auriculo-vertebral spectrum through liminal pure-tone audiometry and speech audiometry test. Methods Cross-sectional study conducted on 10 patients with oculo-auriculo-vertebral spectrum and clinical findings on at least two of the following areas: orocraniofacial, ocular, auricular, and vertebral. All patients underwent tonal and vocal hearing evaluations. Results Seven patients were male and three were female; all had ear abnormalities, and the right side was the most often affected. Conductive hearing loss was the most common (found in 10 ears), followed by sensorineural hearing loss (in five ears), with mixed hearing loss in only one ear. The impairment of the hearing loss ranged from mild to moderate, with one case of profound loss. Conclusions The results show a higher frequency of conductive hearing loss among individuals with the oculo-auriculo-vertebral spectrum phenotype, especially moderate loss affecting the right side. Furthermore, research in auditory thresholds in the oculo-auriculo-vertebral spectrum is important in speech therapy findings about the disease to facilitate early intervention for possible alterations.

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Section: Discussionmentioning

confidence: 98%

“…3 OAVS is related to a blastogenesis dysfunction, which affects the first and second pharyngeal arches. 4 Some of the identified OAVS characteristics are hemifacial microsomia, mandibular hypoplasia, epibulbar dermoids, and skeletal anomalies. 1 Moreover, the right side is more often affected than the left.…”

Section: Introductionmentioning

confidence: 99%

Audiological Findings in Patients with Oculo-Auriculo-Vertebral Spectrum

Sleifer

Gorsky

Goetze

et al. 2014

Int. Arch. Otorhinolaryngol.

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Nager Syndrome

Lansinger¹,

Rayan²

2015

The Journal of Hand Surgery

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Case of oculo-auriculo-vertebral spectrum: rare clinical features

et al. 2021

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A 2-month-old boy presented to us with bilateral microtia, left lower motor neuron facial palsy, micrognathia, hemivertebra, bifid rib, bifid thumb and absent/hypoplastic right-sided depressor anguli oris. He had bilateral external auditory canal atresia, although response to loud sound was present. Brain stem evoked response audiometry (BERA) was advised at 3 months of age. Karyotype was normal. We diagnosed him as a case of oculo-auriculo-vertebral spectrum. Child was discharged on request by the family with the plan for bone-anchored hearing aid after BERA and plan for pinna and ear canal reconstruction at a later age but child did not come for any follow-up visit. On telephonic enquiry, it was found that he is thriving well but has developmental delay including speech delay. We conclude that children presenting with external ear abnormalities should be screened for multiple congenital anomalies so that a multidisciplinary approach to management can be planned.

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Oculoauriculovertebral spectrum with radial anomaly in child

Cited by 4 publications

References 9 publications

Audiological Findings in Patients with Oculo-Auriculo-Vertebral Spectrum

Audiological Findings in Patients with Oculo-Auriculo-Vertebral Spectrum

Nager Syndrome

Case of oculo-auriculo-vertebral spectrum: rare clinical features

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