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Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology.

Fetal and pediatric pathology - 1 Apr 2022

Tonni Gabriele, Grisolia Gianpaolo, Baldi Maurizia, Bonasoni MariaPaola, Ginocchi Vladimiro, Rolo Liliam Cristine, Araujo Júnior Edward

Abstract excerpt

Background Apert syndrome is characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly. Case report: A 36-year-old mother, G2P1 underwent an ultrasound scan at 19 week's gestation. There was craniosynostosis, brachi-turricephaly and bilateral hand syndactyly. Genomic DNA from amniocentesis revealed the mutation C758C>Gp. (Pro to Arg substitution) at 252 of the exon 8 of the FGFR2 encoding for...

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PMID: 32538685
DOI: 10.1080/15513815.2020.1775732

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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