Oculo auriculo vertebral spectrum and CHARGE association

Author:

Bathula ShruthiORCID,Bhate Manjushree

Abstract

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.

Publisher

BMJ

Subject

General Medicine

Reference9 articles.

1. Singhal D , Tripathy K . Oculo auriculo vertebral spectrum. StatPearls Publishing, 2022.

2. Oculoauriculovertebral dysplasia

3. Goldenhar syndrome: clinical features with orofacial emphasis

4. Triads in ophthalmology: a comprehensive review;Tripathy;Semin Ophthalmol,2017

5. Oculo-Auriculo-Vertebral spectrum and the charge association;Van Meter;Clinical Dysmorphology,1996

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