Article

Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester: a case report

2024-04-25

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Craniosynostosis is one of the symptoms of Apert syndrome which is largely attributed to the disruptions of the fibroblast growth factor receptor 2 ( <italic>FGFR2</italic> ) gene. The prenatal diagnosis of Apert syndrome typically depends on the ultrasound imaging at the late pregnancy, which is unfavorable for the early diagnosis. <bold>Case presentation...

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Literature Corpus work: 824069c8-89e9-5a56-9416-00202665daac
DOI: 10.21203/rs.3.rs-4260890/v1

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