A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney
- PMID: 40390968
- PMCID: PMC12085495
- DOI: 10.1007/s13224-024-02020-5
A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney
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.
© Federation of Obstetric & Gynecological Societies of India 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
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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