Article

Stromme Syndrome Presenting with classic Microcephaly and Apple-Peel Intestinal Atresia in a Neonate: A Genetically Confirmed Case Report

2025-12-04

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Stromme syndrome is an exceptionally rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the <italic>CENPF</italic> gene. It is classically characterized by microcephaly and apple-peel type intestinal atresia, often accompanied by ocular, cardiac, and genitourinary anomalies. Fewer than 30 genetically confirmed cases have been rep...

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Literature Corpus work: 4c3526bc-fb6f-5144-b758-9d0c699ce8fd
DOI: 10.21203/rs.3.rs-7996952/v1

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