ArticleBMJ case reports2019
Apert syndrome: prenatal diagnosis challenge.
Article in BMJ case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.BMC pregnancy and childbirth · 2026Article
- Analysis of prenatal ultrasound in diagnosing fetal craniosynostosis and its correlation with genetic anomalies: description of two cases and literature analysis.Quantitative imaging in medicine and surgery · 2026Article
- Prenatal diagnosis of craniosynostosis: a case description and genetic evaluation.Quantitative imaging in medicine and surgery · 2026Article
- Prenatal diagnosis of apert syndrome at 23 weeks: a case report with isolated syndactyly and sacrococcygeal appendage preceding cranial malformation.AME case reports · 2026Article
- Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome.Diagnostics (Basel, Switzerland) · 2024Review
- Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.Cureus · 2023Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge. A healthy 33-year-old woman, gravida 4, para 0, was referred to routine ultrasound at 22 weeks of gestation. Atypical cranial morphology with prominent forehead, ocular proptosis, hypertelorism and mitten hands were detected. Genetic investigation revealed an FGFR2 gene mutation (c.755C>G(p.Ser252Trp)), confirming the diagnosis. Magnetic resonance showed brachycephaly, turricephaly and cortical malformation. Following counselling, parents requested medical termination of pregnancy. Macroscopic features were consistent with ultrasound findings. This case emphasises the importance of early diagnosis to provide the best family counselling and prenatal management. A multidisciplinary team, consisting of an obstetrician with ultrasonography experience, a medical geneticist and a fetal pathologist, should conduct these cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.