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Pfeiffer syndrome: a treatment evaluation.

Jeffrey A Fearon1, Jennifer Rhodes

  • 1Dallas, Texas; and Richmond, Va. From the Craniofacial Center, Medical City Children's Hospital, and the Division of Plastic and Reconstructive Surgery, Virginia Commonwealth University Medical Center, Virginia Commonwealth University Health System.

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Pfeiffer syndrome management has improved, with lower mortality rates for types II and III. Aggressive airway management and early screening for Chiari malformations can further reduce risks.

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Area of Science:

  • Craniofacial Surgery
  • Pediatric Genetics
  • Neurosurgery

Background:

  • Pfeiffer syndrome is a rare craniosynostosis disorder with high mortality in severe subtypes.
  • Previous reports indicate mortality rates ranging from 25 to 85 percent.
  • This study aimed to improve outcomes by reviewing surgically treated patients.

Purpose of the Study:

  • To assess outcomes in surgically treated Pfeiffer syndrome patients.
  • To identify factors contributing to improved survival and reduced complications.
  • To compare outcomes across different Pfeiffer syndrome subtypes.

Main Methods:

  • A 17-year retrospective outcome assessment was conducted at a single center.
  • Data from surgically treated children with Pfeiffer syndrome were analyzed.
  • Descriptive statistics were used to summarize patient data and treatment outcomes.

Main Results:

  • Of 802 craniosynostosis patients, 28 had Pfeiffer syndrome (17 type I, 7 type II, 4 type III).
  • The overall mortality rate was 7%, significantly lower than previously reported for types II and III.
  • Common complications included external auditory canal atresia (59%), visual disturbances (29%), acquired Chiari malformations (84%), and hydrocephalus (61%).

Conclusions:

  • The study achieved lower mortality rates for Pfeiffer syndrome types II and III compared to existing literature.
  • Preemptive tarsorrhaphy is recommended to prevent visual loss.
  • Aggressive airway management (early tracheostomies) and enhanced screening for Chiari malformations are crucial for further mortality reduction.