Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis

Abstract

Purpose: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings.

Methods: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed.

Results: A total of 18 cases including the one we present were selected. Among the most frequent sonographic features, skull shape anomalies were evident in 72.2% of cases, nasal abnormalities in 50%, proptosis and hypertelorism in 44.4% and frontal bossing in 22.2%. Thumbs’ anomalies were present in 33.3% of cases and toes’ abnormalities in 38.9%. In all cases, postnatal or postmortem examination confirmed the prenatal diagnosis of PS.

Conclusions: We provide a literature review of prenatal diagnosis of PS to identify ultrasound features that may be supportive in the diagnosis of this rare disease, helping in making a differential diagnosis with the other possible craniosynostosis syndromes and in suggesting gene molecular testing.

Keywords:

• Pfeiffer syndrome
• prenatal diagnosis
• FGFR1
• FGFR2
• cloverleaf skull

Acknowledgements

No acknowledgments to source of financial grants and other funding.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the manuscript. Patients signed a written consent to the inclusion of material pertaining to themselves, and they acknowledge that they cannot be identified via the paper and that we have fully anonymized them.