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S. Subramanian

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Open access Nov 2026

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...

S. Shree, S. Mohan, S. Subramanian · 0 citations
Open access Aug 2026

Morquio Syndrome Type IVA, an Autosomal Recessive Lysosomal Storage Disorder in a 7-year-old Female: A Case Report

Mucopolysaccharidosis Type IV (Morquio syndrome) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of N-acetylgalactosamine-6-sulfatase, resulting in progressive accumulation of Glycosaminoglycans (GAG) in multiple tissues. The disorder primarily affects skeletal development and is character...

M. Fathima, Vijayalakshmi Samudi, S. Subramanian et al. · 0 citations

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