AAPS, American Association of Plastic Surgeons
AAPS, American Association of Plastic Surgeons
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2008 Annual Meeting Abstracts

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Pfeiffer Syndrome : A Treatment Outcome Analysis
Jeffrey A. Fearon, MD, Jennifer L. Rhodes, M.D..
The Craniofacial Center, Dallas, Dallas, TX, USA.

PURPOSE: Pfeiffer syndrome is a rarely encountered craniofacial anomaly, even at the busiest centers. Aside from the suggestion that there is a poor prognosis for sub-types II and III, no review of treatment outcomes has ever been reported. The purpose of this study was to review our series of surgically treated patients with this syndrome, focusing on phenotypic variability and treatment results, in order to improve outcomes.
METHODS: Following exemption approval from our I.R.B., the records of all patients identified with Pfeiffer syndrome were retrospectively reviewed. Physical findings, surgical interventions, complications and outcomes were tabulated.
RESULTS: 26 patients were identified as having Pfeiffer syndrome, of whom 24 had accessible medical records. Sub-classified by type there were: 12 Type I’s (50%), 8 Type II’s (33%) and 4 Type III’s (17%). 65% were diagnosed with atresia of the external ear canal, and 88% had conductive hearing loss. The average age of patients was 5 years (range 6 mo.- 29 years), with an average number of 9.4 operations performed per patient (3.3 craniofacial, 1.9 neurosurgical, 4.2 other). Almost 60% of patients (14/24) required tracheostomies (42% Type I’s, 75% Type II’s and 75% Type III’s) and 2 required tracheal stenosis corrections (both Type II’s). 82% of patients were diagnosed with acquired Chiari malformations (73% Type I’s, 86% Type II’s and 100% Type III’s), and over half have required decompression. Of 12 patients who underwent VP shunt placement for hydrocephalous, 100% developed Chiari malformations and 9/12 (75%) symptomatic patients required treatment. None of the patients who have undergone endoscopic third ventriculostomies (ETV) for hydrocephalous have developed symptomatic Chiari’s (however, the mean ages for the two groups differed: shunts = 5.6 years, ETV’s = 2.0 years). Complications occurred in 6/24 patients (25%) and included 1 CSF leak and 1 infection at our center, and 3 infections and 1 unilateral visual loss at outside institutions. There were 2 deaths, both occurring at home while the patients were sleeping.
CONCLUSIONS: In what may be the first overview of surgical outcomes in Pfeiffer syndrome, we noted a high percentage of otologic impairment; as well as a significant number of airway issues, with almost two thirds of the patients requiring either tracheostomies or tracheal stenosis reconstructions. Thus far, patients have undergone almost 2 operative procedures per year of life. We noted an 8% mortality rate, with all deaths occurring at home and without any temporal proximity to operative treatment. We found an extremely high incidence for acquired Chiari malformations (higher than reported for any of the other craniofacial dysostoses), half of which have already required treatment at a mean age of 5 years. Our preliminary analysis suggests that patients with ETV’s may require fewer Chiari decompressions than those treated with shunts. Based on this review, we speculate that vigorous early airway evaluations and routine Chiari screening protocols might further lower the observed mortality rate in patients with Pfeiffer syndrome.


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