Article

RAPSN-Related Fetal Akinesia Deformation Sequence with Low-Lying Conus Medullaris: A Case Report and Literature Review

2026-06-28

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Fetal akinesia deformation sequence (FADS) is a severe, often lethal condition caused by reduced fetal movement. Pathogenic variants in RAPSN are a recognized cause of FADS and congenital myasthenic syndromes (CMS), but the prenatal phenotypic spectrum remains incompletely defined. <bold>Case presentation:</bold> We report a fetus at 23+5 weeks of gestation...

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Literature Corpus work: bff74ae2-ec35-5667-94cb-22039808ac99
DOI: 10.21203/rs.3.rs-9753089/v1

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