Article

Atypical Hypotonia-Dominant Infantile Presentation of Genetically Confirmed Schwartz-Jampel Syndrome: A Case Report

2026-03-18

Abstract excerpt

<title>Abstract</title> <p> Background Schwartz–Jampel syndrome (SJS) is an ultra-rare autosomal recessive disorder caused by mutations in the <italic>HSPG2</italic> gene, which encodes the extracellular matrix protein perlecan. The condition is classically characterized by the triad of myotonia, skeletal dysplasia, and distinctive facial dysmorphism. Most patients with SJS type 1 develop symptoms during earl...

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Literature Corpus work: 6d7f1d27-3cf8-5639-aef7-76a0f3edefa4
DOI: 10.21203/rs.3.rs-9101955/v1

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