Pfeiffer syndrome: A clinical review

M. H. Moore*, S. B. Cantrell, J. A. Trott, D. J. David

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

54 Citations (Scopus)


The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome) classically followed a benign clinical course. A review of the clinical features of those Pfeiffer syndrome patients presenting to our unit confirm another subgroup in whom the craniofacial and associated manifestations are more extreme, with a significant risk of early demise. The early aggressive surgical management of craniostenosis, hydrocephalus, exorbitism, faciostenosis, and upper airway obstruction has provided the potential for prolonged useful survival in these cases.

Original languageEnglish
Pages (from-to)62-70
Number of pages9
JournalCleft Palate-Craniofacial Journal
Issue number1
Publication statusPublished - 1995
Externally publishedYes


  • acrocephalosyndactyly
  • craniosynostosis
  • Pfeiffer syndrome


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