Article

Prenatal Sonographic Features and Genotype–Phenotype Correlations in Coffin–Siris Syndrome: A Systematic Case Analysis of 32 Fetuses

2026-04-14

Abstract excerpt

<title>Abstract</title> <p>Background Coffin–Siris syndrome (CSS) is a rare multisystem genetic disorder caused by pathogenic variants in genes encoding components of the BAF/SWI–SNF chromatin-remodeling complex. Prenatal recognition is difficult because the phenotypic spectrum is heterogeneous and many characteristic features emerge only after birth. We aimed to summarize the prenatal imaging spectrum of CSS an...

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Literature Corpus work: b3fb1f18-1b6f-5dc9-8876-1972546e395e
DOI: 10.21203/rs.3.rs-9085595/v1

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