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

Antonella Giancotti, Valentina D’Ambrosio, Enrica Marchionni, Antonia Squarcella, Camilla Aliberti, Renato La Torre, Lucia Manganaro, Antonio Pizzuti, PECRAM Study Group*

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)2225-2231
Number of pages7
JournalJournal of Maternal-Fetal and Neonatal Medicine
Issue number18
Publication statusPublished - Sep 17 2017


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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynaecology


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