Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.

BMC pregnancy and childbirth - 26 May 2026

Chen Xiaoying, Jin Pengzhen, Chen Min, Zuo Juan, Liu Jie, Zhu Jin, Lin Miaochun, Li Zhaohui, Dong Minyue

Abstract excerpt

BACKGROUND: Apert syndrome is a syndromic craniosynostosis primarily caused by pathogenic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Current prenatal diagnosis of Apert syndrome predominantly relies on ultrasound imaging in the third trimester (28 weeks of gestation to delivery), which is not conducive to early clinical decision-making. CASE PRESENTATION: In this case, prenatal ultrasound...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acrocephalosyndactylia
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Pregnancy

Share to Pregnancy Trimester, Second

Share to Prenatal Diagnosis

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Ultrasonography, Prenatal

Source

Open in PubMed Open full text

Identifiers

PMID: 42186005
DOI: 10.1186/s12884-026-09282-z
PMCID: PMC13386681

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.PMID 42186005Read ↗

Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester: a case reportSemantic proximity Read ↗

Prenatal diagnosis of Apert syndrome.Semantic proximity Read ↗

Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case reportSemantic proximity Read ↗

Apert syndrome: A case report of prenatal ultrasound, postmortem cranial CT, and molecular genetic analysis.Semantic proximity Read ↗

[Prenatal diagnosis of Apert syndrome caused by de novo mutation in FGFR2 gene].Semantic proximity Read ↗

Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.Semantic proximity Read ↗

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

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.Semantic proximity Read ↗

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following sonographic findings of mild ventriculomegaly and clenched hands mimicking trisomy 18.Semantic proximity Read ↗

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.Semantic proximity Read ↗

Understanding the molecular basis of Apert syndrome.Semantic proximity Read ↗

Apert syndrome: what prenatal radiographic findings should prompt its consideration?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.