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


CONCLUSIONS
Based on these data, a syndrome-specific risk profile with suggestions for screening and treatment is presented.
de Jong
T
T
Dutch Craniofacial Center, Erasmus MC, Sophia Children's hospital, Department of plastic surgery, SK-1202, PO Box 2060, 3000 CB Rotterdam, the Netherlands. t.dejong@erasmusmc.nl
Bannink
N
N
Bredero-Boelhouwer
H H
HH
van Veelen
M L C
ML
Bartels
M C
MC
Hoeve
L J
LJ
Hoogeboom
A J M
AJ
Wolvius
E B
EB
Lequin
M H
MH
van der Meulen
J J N M
JJ
van Adrichem
L N A
LN
Vaandrager
J M
JM
Ongkosuwito
E M
EM
Joosten
K F M
KF
Mathijssen
I M J
IM
D000293:Adolescent; D000328:Adult; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D003398:Craniosynostoses / Q000150:complications* / Q000601:surgery*; D005260:Female; D006311:Hearing Disorders / Q000453:epidemiology / Q000209:etiology / Q000601:surgery; D006801:Humans; D007223:Infant; D019586:Intracranial Hypertension / Q000453:epidemiology / Q000209:etiology / Q000601:surgery; D008297:Male; D015995:Prevalence; D020127:Recovery of Function; D012189:Retrospective Studies; D020181:Sleep Apnea, Obstructive / Q000453:epidemiology / Q000209:etiology / Q000601:surgery; D013577:Syndrome; D016896:Treatment Outcome; D014786:Vision Disorders / Q000453:epidemiology / Q000209:etiology / Q000601:surgery