Back to Program
Pfeiffer Syndrome: Analysis of 42 Patients over 35 Years and Development of the NYU Functional Classification System
Aina Greig, MA PhD FRCS(Plast), Janelle Wagner, MD, Stephen M. Warren, MD, Barry Grayson, DDS, Joseph G. McCarthy, MD.
NYU Langone Medical Center, New York, NY, USA.
Among the craniosynostosis syndromes, Pfeiffer syndrome is notable for high mortality and need for repeated surgical intervention. It is variable in severity and can be associated with significant functional problems. The purpose of this study was to review our series and develop a new classification of Pfeiffer syndrome, which can also be used to measure changes in functional outcome with treatment.
An IRB approved retrospective review was performed of 42 Pfeiffer syndrome patients presenting from 1975-2010, the largest yet reported series. The proposed NYU classification is based on a functional scoring system of respiratory, ocular, otological and neurological problems.
Respiratory Score: Respiratory crisis or need for emergency airway, e.g. tracheostomy = 3; Obstructive sleep apnea (OSA) but no need for emergency surgery = 2.
Ocular Score: Globe herniation = 3; Corneal exposure = 2; Amblyopia /strabismus = 1.
Otologic Score: Hearing impairment = 1.
Neurologic Score: Elevated intracranial pressure / optic atrophy = 3; Chiari I / syrinx / seizures / hydrocephalus / brain anomaly = 2; Motor / speech delay = 1.
The highest scores in each category were totaled and patients stratified according to their total score: -Group A (mild) - total ≤2; Group B (moderate) - total 3-6; or Group C (severe) - total ≥7-10. Patients were also scored both at the time of presentation and after all surgical interventions to assess change in functional outcome.
Type A (7 patients): Respiratory: OSA (1); Ocular: corneal exposure (1), strabismus (3); Otologic: hearing loss (2); Neurologic: (0). Suture pathology: 1 no radiographic evidence of sutural synostosis, 4 bicoronal, 1 multisuture, 1 cloverleaf.
Type B (12 patients): Respiratory: OSA (5); Ocular: globe herniation (2), corneal exposure (2), strabismus (9); Otologic: hearing loss (8); Neurologic: elevated ICP (2), Chiari I (2), VP shunt (4), hydrocephalus (4), seizure disorder (1), speech/motor delay (5). Suture pathology: 2 no radiographic evidence sutural synostosis, 4 bicoronal, 4 multisuture, 2 cloverleaf.
Type C (23 patients): Respiratory: death from respiratory compromise (4), tracheostomy (11), OSA (10), adenotonsillectomy (6); Ocular: globe herniation (5), corneal exposure (14), strabismus (13); Otologic: hearing loss (15); Neurologic: raised ICP (11), optic atrophy (2), Chiari I (7), VP shunt (12), hydrocephalus (14), brain anomaly (6), speech/motor delay (12). Suture pathology: 2 no radiographic evidence of sutural synostosis, 1 sagittal synostosis, 3 bicoronal, 14 multisuture, 3 cloverleaf.
Type A patients did not have any change in their functional outcomes after surgery (mean preop score 1.6, mean postop score 1.6), whereas Type B patients (mean preop score 4.3, mean postop score 3.5) and Type C patients (mean preop score 7.8, mean postop score 4.8) demonstrated improved functional scores after surgical intervention.
Suture pathology did not indicate severity of phenotype, a variance from a previously published classification. The proposed NYU functional classification is a more useful guide to the severity of phenotype: respiratory, ocular, otologic and neurologic problems are key indicators of need for treatment. The classification can also provide a helpful guide in evaluation of post operative functional outcomes.
Back to Program