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

Brotto, Davide; Manara, Renzo; Ghiselli, Sara; Lovo, Elisa; Mardari, Rodica; Toldo, Irene; Castiglione, Alessandro; Schifano, Giovanni; Stritoni, Valentina; Bovo, Roberto; Trevisi, Patrizia; Martini, Alessandro

doi:10.1007/s00234-017-1795-1

Cited by 23 publications

(20 citation statements)

References 37 publications

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“…Inner ear malformations have later been reported also by Brotto et al in 31 % of their patients [80]: two patients had a unilateral or bilateral complete labyrinthine aplasia (one with contralateral common cavity deformity) and one had bilateral cochlear hypoplasia with concomitant semicircular canal dysplasia. A case of incomplete partition type 1 was also reported.…”

Section: Petrous Bone Imaging Findingsmentioning

confidence: 61%

“…The pathological spectrum is exceptionally variable, occasionally involving structures originating behind the first and second branchial arches (e.g. : neural tube, neural crest or notochord) [80]. Systemic manifestations are also known, including genitourinary and cardiovascular anomalies or radial ray anomalies [79].…”

Section: General Characteristicsmentioning

confidence: 99%

“…The rate of brain anomalies was 56 %: again, a strong association was noted with Goldenhar phenotype and, interestingly, with cranial nerve and internal acoustic meatus abnormalities. Newly reported brain anomalies were tegmental cap dysplasia, cerebellar dysplasia and nonspecific white matter signal abnormalities [80].…”

Section: Brain Imaging Findingsmentioning

confidence: 99%

See 2 more Smart Citations

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

D’Arco

Youssef

Ioannidou

et al. 2020

European Journal of Radiology

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To describe in detail the temporal bone and brain findings in both common and rare syndromic causes of hearing loss, with the purpose of broadening among radiologists and enhance the current understanding of distinct imaging features in paediatric patients with syndromic hearing loss. Methods: A detailed search of electronic databases has been conducted, including PubMed, Ovid Medline, Scopus, Cochrane Library, Google Scholar, National Institute for Health and Care Excellence (NICE), Embase, and PsycINFO. Results: Syndromic causes of hearing loss are characterised by different and sometimes specific abnormalities in the temporal bone. Conclusion: A complete knowledge of the image findings in the temporal bones, brain, skull and other body regions is critical for the optimal assessment and management of these patients. 2.1. Inner ear The inner ear development starts late in the 3rd week of gestation, with the formation of the otic placode (an ectodermal thickening on both sides of the developing head).The otic placode later invaginates to form otic pits which then fuse to form the otic vesicle. By day 26, the ventral region of otic vesicle differentiates into the saccule, the lower pole of which gives rise to the cochlear duct, which will form 2.5 turns by the 8th week. During the 7th week, cochlear duct epithelial cells differentiate to form the Organ of Corti. The mesenchyme surrounding the cochlear

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Section: Petrous Bone Imaging Findingsmentioning

confidence: 61%

Section: General Characteristicsmentioning

confidence: 99%

See 1 more Smart Citation

Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide

D’Arco

Youssef

Ioannidou

et al. 2020

European Journal of Radiology

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“…Oculoauriculovertebral spectrum results from the disruption of the normal development of the first and second pharyngeal arches (Tasse et al, 2005; Birgfeld and Heike, 2012; Manara et al, 2015; Davide et al, 2017). The facial nerve is derived from the second pharyngeal arch, and facial nerve dysfunction is common in OAVS (Bergstrom and Baker, 1981; Murray et al, 1984; Bassila and Goldberg, 1989).…”

Section: Discussionmentioning

confidence: 99%

“…Oculoauriculovertebral spectrum (OAVS) represents a collection of traits resulting from the incomplete development of structures derived from the first and second pharyngeal arches (Tasse et al, 2005; Birgfeld and Heike, 2012; Davide et al, 2017). Phenotypes of OAVS are heterogenous and range from isolated microtia to severe hemifacial microsomia (Tasse et al, 2005; Birgfeld and Heike, 2012; Davide et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Anomalous Extratemporal Facial Nerve in Oculoauriculovertebral Spectrum

Head

Xuan

Boyd

et al. 2018

The Cleft Palate-Craniofacial Journal

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Facial nerve dysfunction is common in oculoauriculovertebral spectrum (OAVS). However, the course of the nerve has rarely been described. A 23-year-old woman with OAVS underwent excision of microtic ear remnants in preparation for an osseointegrated prosthesis and suffered iatrogenic transection of the facial nerve-the pes anserinus was within the subcutaneous tissue 15 mm posterior and 15 mm cephalad to the external acoustic meatus. The patient underwent primary nerve repair and regained nearly complete preoperative function. When considering reconstruction for OAVS patients, clinicians should have a high index of suspicion for anomalous facial nerve anatomy.

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