Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease

Abstract

Purpose: Crouzon syndrome is a complex craniosynostosis of autosomal dominant transfer, with a highly variable phenotypic appearance. Some patients are afflicted with a mild form of the disease and able to live a fully functional lifestyle, whereas many patients suffer from a severe form of the disease causing a significant impact on their quality of life. Although several case reports and genetic studies have been performed, there has been no recent review of the literature to collate the information on this disorder. In this paper, we seek to unify the findings of this disorder to provide the pediatric provider with a succinct, but complete discussion of this disease.

Methods: Articles from 1994 to 2014 were queried on PubMed and reviewed for utility by all three researchers involved in the project. Further literature review was done on relevant articles found within references of selected articles.

Results: Crouzon syndrome, although of variable penetrance, is thought to be caused in part by a mutation in the fibroblast growth factor receptor-2 (FGFR2) on chromosome 10. Aside from craniofacial malformations, the disease can also cause hearing loss and airway challenges due to malformations in the nasal cavity and nasopharyngeal airway. Management options from the perspective of the otorhinolaryngologist are diverse and revolve around craniosynostectomy, offsetting midfacial hypoplasia, addressing obstructive sleep apnea and a compromised airway, psychosocial and esthetic interventions, and ultimately requiring a multidisciplinary team approach.

Conclusion: Mutations in the FGFR2 are responsible for 50 % of mutations within this multifaceted syndrome. Crouzon syndrome is an autosomal dominant disorder with a number of distinguishing characteristics, including craniosynostosis, maxillary hypoplasia, exophthalmos, and multiple other features. Early intervention, both medically and surgically, as well as disciplined follow-up with the pediatric provider are crucial to the management of this disorder. In particular, management should address cranial suture release, midfacial advancement, evaluation for hearing deficits, and obstructive sleep apnea, with expedient intervention for airway compromise and increased intracranial pressure.