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Oculo auriculo vertebral spectrum and CHARGE association
  1. Shruthi Bathula1 and
  2. Manjushree Bhate2
  1. 1Pediatric Ophthalmology, Strabismsus and Neuro Ophthalmology, LV Prasad Eye Institute, Hyderabad, India
  2. 2Jasti V Ramanamma Children's Eye Care Center, LV Prasad Eye Institute, Hyderabad, Telangana, India
  1. Correspondence to Dr Manjushree Bhate; manjubhate{at}


A boy in his early childhood was brought for a comprehensive eye examination as advised by a paediatrician. The child had plagiocephaly, absent left ear (anotia), facial asymmetry, deviation of mouth to the left side, receding chin and teeth, scoliosis and a Mongolian spot on the lower back. There was also absence of seventh and eighth cranial nerves on the left side on MRI of the brain. Echocardiography showed a small ventricular septal defect and a single umbilical artery. Gross motor milestones were delayed and on ocular examination, the child showed right eye preference and retinochoroidal coloboma in the left eye. The child was managed with a multidisciplinary approach involving the paediatrician, ENT specialist, ophthalmologist, clinical geneticist and rehabilitative services. The child was managed conservatively with spectacles and occlusion therapy of the right eye, and genetic counselling was given along with a left hearing aid and rehabilitation.

  • Ophthalmology
  • Rehabilitation medicine
  • Congenital disorders

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  • Contributors SB: gathered information and drafted the manuscript, MB: conceived the idea and reviewed the first draft.

  • 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.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

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