Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Dec;74(Suppl 3):4159-4163.
doi: 10.1007/s12070-021-02874-5. Epub 2021 Sep 25.

Cochlear Implantation in Goldenhar Syndrome

Shubhangi Gupta  1 , Sunil Samdani  1 , Jairaj Kumar Vaishnav  2 , Yogendra Singh  1 , Mohnish Grover  1
Affiliations

Cochlear Implantation in Goldenhar Syndrome

Shubhangi Gupta et al. Indian J Otolaryngol Head Neck Surg. 2022 Dec.

Abstract

Goldenhar syndrome is a rare genetic condition characterized by hemifacial microsomia, mandibular hypoplasia, auricular malformations, and epibulbar dermoids. The syndrome has both sporadic and familial occurrence. Incidence of congenital hearing loss in these patients is 1:1000 in children with a male to female ratio of 3:2. In our case study we report a case of Goldenhar Syndrome who underwent cochlear implantation. The patient had right side microtia, right hemifacial microsomia and right side torticollis, pterygium in her right eye, right hypoplastic thumb and unilateral right side kidney. Radiologically, there was narrow duplicated internal auditory canal on right side with absent right cochlear nerve with normal anatomy on left side and the left side showed malformed facial nerve at tympani segment and second genu. Therefore, the patient was planned for left side cochlear implantation. Intraoperatively, there were malformed ossicles with anomalous facial nerve covering whole of oval window and partially the round window. Thus, a separate cochleostomy was done. Impedance was < 5 Hertz in all electrodes and electrically evoked action potential (ECAP) thresholds were obtained on all electrodes.

Keywords: Anomalous facial nerve; Cochlear implantation; Goldenhar syndrome; Hemifacial microsmia.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Clinical features of Goldenhar syndrome a. Hemifacial microsomia and right side torticollis b. Right hypolplastic thumb c. Right side pterygium d. Right side microtia
Fig. 2
Fig. 2
High resolution computed tomography of left side temporal bone a. Anomalous facial nerve covering oval window (red arrow) b. Anomalous facial nerve covering round window (red arrow)
Fig. 3
Fig. 3
Intraoperative findings depicting posterior tympanotomy and malformed ossicles with abnormal facial nerve course and separate cochleostomy. Anomalous facial nerve covering the round window (yellow arrow). Malformed ossicles showing stapes head connected to incudomalleal complex via a fibrous band (black arrow). Separate anteroinferior cochleostomy over the promontory (blue arrow)
See this image and copyright information in PMC

References

    1. Andrews TM, Shott SR. Laryngeal manifestations of goldenhar syndrome. Am J Otol. 1992;13:312–315. doi: 10.1016/0196-0709(92)90055-X. - DOI - PubMed
    1. Cullins SL, Pridjian G, Sutherland CM. Goldenhar’s syndrome associated with tamoxifen given to the mother during gestation. JAMA. 1994;271:1905–1906. doi: 10.1001/jama.1994.03510480029019. - DOI - PubMed
    1. Lessick M, Vasa J, Israel R. Severe manifestations of oculoauriculovertebralspectrum in a cocaine-exposed infant. J Med Genet. 1991;28:803–804. doi: 10.1136/jmg.28.11.803. - DOI - PMC - PubMed
    1. Tuna EB, Orino D, Ogawa K, Yildirim M, Seymen F, Gencay K, et al. Craniofacial and dental characteristics of Goldenhar Syndrome: A report of two cases. J Oral Sci. 2011;53:121–124. doi: 10.2334/josnusd.53.121. - DOI - PubMed
    1. Bisdas S, Lenarz M, Lenarz T, Becker H. Inner ear abnormalities in patients with goldenhar syndrome. OtolNeurotol. 2005;26(3):398–404. - PubMed

LinkOut - more resources