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Case Reports
. 2025 Apr;75(Suppl 1):610-612.
doi: 10.1007/s13224-024-02020-5. Epub 2024 Sep 14.

A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney

Poornima Sharma  1 , Shreya Singh Kushwaha  1 , Suchandana Dasgupta  1 , Sumitra Bachani  1
Affiliations
Case Reports

A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney

Poornima Sharma et al. J Obstet Gynaecol India. 2025 Apr.

Abstract

Pfeiffer syndrome is a rare syndromic craniosynostosis characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. It is caused by mutations affecting the fibroblast growth factor receptors type 1 or 2 (FGFR1 or FGFR2), with autosomal dominant inheritance. It displays substantial clinical and genetic heterogeneity. The disorder is usually detected in the neonatal period, and very few prenatally diagnosed cases have been reported.

Keywords: Craniosynostosis; Foetal autopsy; Histopathological examination; Prenatal ultrasound; Whole exome sequencing.

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Conflict of interest statement

Conflict of interestAny potential conflicts of interest regarding all Authors have been fully disclosed in a conflicts-of-interests statement in the submitted Title Page.

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References

    1. Torres-Canchala L, Castaño D, et al. Prenatal diagnosis of Pfeiffer syndrome patient with FGFR2 C.940–1G>C variant: a case report. Appl Clin Genetg. 2020;11(13):147–50. 10.2147/TACG.S251581. - PMC - PubMed
    1. Hu ZY, Lin SM, Zhu MJ, et al. Prenatal diagnosis of Pfeiffer syndrome type 2 with increased nuchal translucency. Clin Case Rep. 2021;9(10): e05001. 10.1002/ccr3.5001. - PMC - PubMed
    1. Kantaputra PN, Angkurawaranon S, Khwanngern K, et al. Clinical and genetic studies of the first monozygotic twins with Pfeiffer syndrome. Genes. 1850;2022:13. 10.3390/genes13101850. - PMC - PubMed

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