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Case report
Case of oculo-auriculo-vertebral spectrum: rare clinical features
  1. Daisy Khera,
  2. Saurabh Agarwal,
  3. Prawin Kumar and
  4. Kuldeep Singh
  1. Department of Pediatrics, All India Institute of Medical Sciences Jodphur, Jodhpur, India
  1. Correspondence to Dr Daisy Khera; pushpinderdaisy{at}gmail.com

Abstract

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.

  • genetics
  • pneumonia (infectious disease)
  • failure to thrive
  • infant health
  • ear
  • nose and throat/otolaryngology

https://doi.org/10.1136/bcr-2019-234181

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    Footnotes

    • Twitter @drkuldeep

    • Contributors DK made substantial contributions to the conception and drafting of the work and revising it critically for important intellectual content and finally approved the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. SA made substantial contributions to the drafting of the work and revising it critically for important intellectual content and finally approved the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. PK made substantial contributions to the drafting of the work and revising it critically for important intellectual content and finally approved the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. KS made substantial contributions to the drafting of the work and revising it critically for important intellectual content and finally approved the version to be published and agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.