S. Mohan

Atypical CHARGE Syndrome with Auditory Neuropathy and Vestibulocochlear Nerve Aplasia: A Case Report

The CHARGE syndrome represents a rare congenital disorder characterised by a constellation of ocular, auditory, vestibular, craniofacial, and developmental anomalies, most commonly linked to pathogenic variants in the CHD7 gene. The phenotypic spectrum is notably wide, and advances in molecular diagnostics have increas...