Journal of Plastic, Reconstructive & Aesthetic Surgery
Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile☆
Section snippets
Study group
A retrospective study on all consecutive patients with Apert, Crouzon, Pfeiffer, Muenke or Saethre–Chotzen syndrome treated at the Dutch Craniofacial Center between 1983 and 2008 was performed. Crouzon and Pfeiffer syndrome often cannot be distinguished from each other genetically, and were therefore considered to be a homogeneous group in this study. The only exclusion criterion was an age of less than 12 months at the time of review, leaving a total of 167 patients that were included.
Protocol for intake, treatment and follow-up
Patients
Baseline
Of the 167 patients who were included, 36 had Apert, 55 had Crouzon/Pfeiffer, 38 had Muenke and 38 had Saethre–Chotzen syndrome. The mean age at time of referral and review was 1 year and 2 months and 10 years and 3 months, respectively. Of the 167 patients, 81 (48%) were boys and 123 (74%) diagnoses were confirmed genetically (Table 1). Of the 43 in whom no mutation was found, 12 were not tested, because parents did not give consent or they were tested in another hospital but no information
Discussion
This study highlights the high prevalence of elevated ICP in patients with Apert, Crouzon/Pfeiffer and Saethre–Chotzen syndromes. OSA is prevalent in patients with Apert and Crouzon/Pfeiffer syndromes and hearing and visual problems are frequent in all of the syndromes. This retrospective description of our population guides us to a diagnosis-specific screening and treatment protocol (Table 7).
All patients need genetic analysis to establish the diagnosis, for selective screening on related
Conflict of interest statement
None of the authors has financial or personal relations with persons or companies that could inappropriately influence the outcome of this study.
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Cited by (0)
- ☆
A part of this study was presented at the 2008 spring meeting of the Dutch Society of Plastic Surgery (NVPC).