BACKGROUND: Pfeiffer syndrome is rarely encountered, even at major craniofacial 
centers. Published reports indicate high mortality rates (25 to 85 percent) for 
severely affected subtypes. The authors reviewed their surgically treated 
patients to improve outcomes.
METHODS: The authors conducted a 17-year, single-center, retrospective outcome 
assessment of all children treated for Pfeiffer syndrome, with data summarized 
using descriptive statistics.
RESULTS: Of 802 patients treated for craniosynostosis, 28 were identified with 
Pfeiffer syndrome: 17 were classified as type I (61 percent), seven were 
classified as type II (25 percent), and four were classified as type III (14 
percent). The mean age was 10 years (range, 12 months to 39 years), with an 
average of 9.3 operations per child (2.5 cranial vaults, 1.1 Le Fort III 
procedures). Fifty-nine percent had external auditory canal atresia (100 percent 
of type III patients), and 29 percent had some visual disturbance. 
Tracheostomies were recommended in 100 percent of type II and III patients, and 
two type II patients required tracheal stenosis repairs. Eighty-four percent had 
acquired Chiari malformations (100 percent of type II and III patients), and 61 
percent required treatment for hydrocephalus. Fifty percent of shunted patients 
(mean age, 7 years) have required Chiari decompressions, but no patients 
undergoing endoscopic third ventriculostomies (mean age, <3 years) have required 
treatment. The mortality rate was 7 percent, with both deaths occurring at home 
without proximity to surgery.
CONCLUSIONS: The authors' mortality rates for type II and III Pfeiffer syndrome 
are lower than those previously published. The authors believe a preemptory 
tarsorrhaphy strategy can prevent visual loss and that further reductions in 
mortality rates are possible with aggressive airway management (early 
tracheostomies) and more frequent screening (e.g., magnetic resonance imaging, 
sleep studies) for Chiari malformations.