ArticleThe application of clinical genetics2020
Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.
Article in The application of clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Outcomes and Complications of Monobloc Versus Le Fort III Procedures for Treating Craniosynostosis: A Literature Review.Plastic and reconstructive surgery. Global open · 2026Article
- A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney.Journal of obstetrics and gynaecology of India · 2025Article
- Recent advances and application of whole genome amplification in molecular diagnosis and medicine.MedComm · 2022Review
- De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome.Case reports in genetics · 2022Article
- Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency.Clinical case reports · 2021Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor FGFR1 and FGFR2 genes, occurring in approximately 1:100,000 live births. PS has a wide range of clinical expression and severity, so early prenatal diagnosis is difficult and genetic counseling is desirable. We describe a PS newborn with her ultrasound and molecular studies. CASE REPORT: We describe a female term newborn with cloverleaf-shaped skull, facial hypoplasia, low ears, exophthalmos and wide, broad and deviated thumbs and hallux. The patient was diagnosed by ultrasound at 29 WGA and referred to a tertiary care hospital for her follow-up. Molecular test revealed a heterozygous pathogenic variant in intron 8 of the FGFR2 gene (FGFR2: c.940-1G>C). It was a de-novo mutation. At 17 days of life, craniosynostosis correction and a Lefort-III frontomaxillary advancement were performed.
conclusionPfeiffer syndrome is a devastating genetic disorder. Prenatal diagnosis according PS morphological features in prenatal ultrasound allows timely genetic counseling, early referral to third-level centers, and close follow-up in the prenatal and postnatal stages.
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