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Type:
Educational Exhibit
Keywords:
Pathology, Genetic defects, Epidemiology, Education, Diagnostic procedure, MR, CT, Conventional radiography, Paediatric, Neuroradiology brain, Head and neck
Authors:
Z. Grodzicka; Olsztyn/PL
DOI:
10.1594/ecr2015/C-0288
Conclusion
The appearance of a patient with Crouzon syndrome can vary in severity from a mid presentation with subtle midface characteristic to a severe form with a multiple cranial suture fusion and marked midface hypoplasia and eye problems.
This craniosynostosis syndrome consist of a spectrum of clinical problems .
Overall knowledge of the natural history,
characteristic findings,
and clinical problems of Crouzon syndrome are mandatory.
These patients should be treated by a multidisciplinary team.
Surveillance for hydrocephalus and other possible complications in those at increased risk is essential.
Symptomatic patients usually require a series of staged surgical interventions tailored to individual needs.
Early treatment of craniofacial anomalies may reduce the risk for secondary complications such as hydrocephalus and cognitive impairment.
Genetic testing for characteristic mutations in the family should be considered,
so that mildly affected relatives can benefit from early intervention.