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Case report：A new foetal sonographic characteristic of Baraitser–Winter cerebrofrontofacial syndrome with ACTB mutation

2024-05-21

Abstract excerpt

<title>Abstract</title> <p>Background Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a complex, rare developmental syndrome characterized by craniofacial, visceral, and muscular manifestations. Diagnosis of BWCFF usually occurs postnatally; however, with the widespread application of prenatal trio whole-exome sequencing (WES), it is now possible to diagnose BWCFF prenatally. Case presentation A pregnant...

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Literature Corpus work: 165c313a-982a-5b92-b291-b1c3525f948d
DOI: 10.21203/rs.3.rs-4349170/v1

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