Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile

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Summary

Objective

Little is known about the long-term prevalence of elevated intracranial pressure (ICP), obstructive sleep apnoea (OSA), level of education, language and motor skills, impaired sight and hearing in craniosynostosis syndromes. The objective of this study was to define the prevalence per syndrome of elevated ICP, OSA, impaired sight and impaired hearing.

Methods

A retrospective study was undertaken on 167 consecutive patients diagnosed with Apert, Crouzon, Pfeiffer, Muenke or Saethre–Chotzen syndrome, aged 1–25 years and treated between 1983 and 2008. The mean age at time of referral and review was 1 years and 2 months and 10 years and 3 months, respectively.

Results

Patients with Apert and Crouzon/Pfeiffer syndromes had the highest prevalence of elevated ICP (33% and 53%, respectively) and OSA (31% and 27%, respectively), while Saethre–Chotzen syndrome was also associated with a fair risk for elevated ICP (21%). The prevalence of impaired sight (61%) and hearing (56%) was high in all syndromes.

Conclusion

Based on these data, a syndrome-specific risk profile with suggestions for screening and treatment is presented.

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).

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