Crouzon Syndrome: Diagnosis, treatment and its clinical correlations

Authors

DOI:

https://doi.org/10.33448/rsd-v12i10.43336

Keywords:

Craniosynostosis; Craniofacial Dysostosis; Maxillofacial abnormalities.

Abstract

Crouzon syndrome is a hereditary primary craniofacial alteration, with autosomal dominant transmission with a wide phenotypic variety, characterized by premature closure of cranial sutures leading to loss of plasticity in the developing skull. The most evident clinical signs of this alteration are: Hypertelorism, exophthalmos, hooked nose or "parrot beak nose" and mandibular prognathism. That said, an early and multidisciplinary approach with a specific schematic prognosis is extremely necessary. Therefore, the objective of this literature review is not only to describe this alteration in detail, but also to inform the main and most common forms of diagnosis and treatments in several different areas. To obtain the necessary data, a bibliographic search was carried out in the PUBMED databases with the MeSH descriptors: “Crouzon Syndrome”, "Craniofacial characteristics in Crouzon's syndrome", "Prevalence of Ocular Anomalies in Craniosynostosis" being combined through the Boolean operator "AND " and SCIELO with the keyword "Syndromic craniosynostosis". Only original articles were included, in Portuguese, English and Spanish, between 1982 and 2023. In total, 482 studies were found, but only 30 were selected through the inclusion criteria. Studies show that Crouzon Syndrome demands multidisciplinary management, in which the interaction between the vast majority of health professionals is extremely important, contributing to an early diagnosis and specific management, always aiming to promote an individualized treatment, providing quality of life to these patients.

References

Al-Qattan, M. M., Phillips, J. H. et al. (1997). Clinical features of Crouzons syndrome patients with and without a positive family history of Crouzons syndrome. J Craniofac Surg. 8(1):11-3. https://doi.org/10.1097/00001665-199701000-00006.

Bowling, E. L., Burstein. F. D. et al. (2006). Crouzon Syndrome. American Optometric Association. 77(5), 217-22. https://doi.org/10.1016/j.optm.2006.03.005

Carinci F., Pezzetti F., Locci P., Becchetti E., Carls F., Avantaggiato A., Becchetti A., Carinci P., Baroni T., Bodo M. et al. (2005). Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. Journal of Craniofacial Surgery 16(3), 361-8. https://doi.org/10.1097/01.scs.0000157078.53871.11.

Cinalli G, Renier D, Sebag G. et al. (1995). Chronic tonsillar herniation in Crouzons and Aperts syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg. 1995, 83(4):575-82. https://doi.org/10.3171/jns.1995.83.4.0575

Cohen M. M. Jr., Kreiborg S. et al. (1992). Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Gene. 41:12-15. https://doi.org/10.1111/j.1399-0004.1992.tb03620.x.

Dickerman R. D., Suzanne M. L. A. A., Schneider S. J. et al. (1998.) Chiari malformation and odontoid panus causing craniovertebral stenosis in a child with Crouzon's syndrome. J Craniofacial Surgery, 12(8):963-6. https://doi.org/10.1016/j.jocn.2004.11.015.

Eswarakumar V. P, Horowitz M. C, Locklin R. et al. (2004). A Gain of Function Mutations of FGFR2C Demonstrates the Roles of this Receptor Variant in Osteogenesis. Proc Natl Acad Sci. 101(34):12555-60. https://doi.org/10.1073/pnas.04050311

Glaser R. L., Jiang W, Boyadjiev S. A. et al. (2000). Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome. Am J Hum Genet. 66(3):768-777. https://doi.org/10.1086/302831.

Godoy, J. F., Spinardi, A. C. P., Ducati, L. G., Abramides, D. V. M., Feniman, M. R., Yacubian-Fernandes, A., & Maximino, L. P. et al. (2010). Achados neuropsicolinguísticos na síndrome de Crouzon: relato de caso. Revista Da Sociedade Brasileira De Fonoaudiologia, 15(4), 594–597. https://doi.org/10.1590/S1516-80342010000400020

Hoefkens M. F, Vermeij-Keers C, Vaandrager J. M. et al. (2004). Crouzon Syndrome: Phenotypic Signs and Symptoms of the Postnatally Expressed Subtype. J Craniofac Surg. 15(2), 233-40. https://doi.org/10.1097/00001665-200403000-00013.

Jabs, E. W. et al. (1993). A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell. 75(3):443-50. https://doi.org/10.1016/0092-8674(93)90379-5.

Kinch M. C. A, Bixler D, Ward R. E. et al. (1998). Cephalometric analysis of families with dominantly inherited Crouzon syndrome: An aid to diagnosis in family studies. Am J Med Genet 77:405-411. Retrieved from https://pubmed.ncbi.nlm.nih.gov/9632171/

Mardini S, See L Ai-chu, Lun-Jou Lo. et al. (2005). Intracranial space, brain, and cerebrospinal fluid volume measurements obtained with the aid of three-dimensional, computerized tomographyin patients with and without Crouzon syndrome. J Neurosurg Pediatrics. 103(3):238-46. https://doi.org/10.3171/ped.2005.103.3.0238.

Moyen G, Mbika C. A, Makarosso E. et al. (2006). Forme congénitale de la maladie de Crouzon. Archives de Pédiatrie. 13, 395-408. https://doi.org/ 10.1016/j.arcped.2006.01.004.

Ousterhout D. K, Zlotow I. et al. (1990). Aesthetic improvement of the forehead utilizing Methylmetacrilate onlay implants. Aesthetic Plast Surg. 14(4):281-5,768-77. https://doi.org/10.1007/BF01578362

Oliveira C. A, et al. (1982). Malformações congênitas da face uma revisão das síndromes mais importantes. Revista Brasileira de Otorrinolaringologia. 48(3), 32-38. Retrieved from http://oldfiles.bjorl.org/conteudo/acervo/acervo.asp?id=2149.

Preston R. A., Post J. C., Keats B. J. B. et al. (1994). A Gene for Crouzon Craniofacial Dysostosis Maps to the Long Arm of Chromosome 10. Nature Genet, 7:149-153. https://dx.doi.org/ 10.1038/ng0694-149

Reardon W, Winter R. M, Rutland P, et al. (1994). Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet, 8:98-103. https://doi.org/10.1038/ng0994-98

Schulz C., Kress W., Schömig A., Wessely R. et al. (2007). Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Clin Genet. 72(4):305-7. https://doi.org/10.1111/j.1399-0004.2007.00861.x.

Zanini S. A, et al. (2007). Fatores envolvidos no desenvolvimento neuropsicológico e na qualidade de vida. Revinter 65(2-B), 468-471. https://doi.org/10.1590/S0004-282X2007000300020.

Published

01/10/2023

How to Cite

D’DALARPONIO, P. de A. T. .; CARNEIRO, R. M. .; ABRÃO, B. M. .; AYRES, T. C. P. .; VELOSO, R. C. .; ASSIS, A. R.; SANTOS JÚNIOR, L. W. dos .; DUTRA, M. B. F. .; DAMIÃO, D. N. .; JERONIMO, R. J. .; SANTOS, J. V. S.; DUARTE , A. F.; CANÇADO, L. B. L. Crouzon Syndrome: Diagnosis, treatment and its clinical correlations. Research, Society and Development, [S. l.], v. 12, n. 10, p. e09121043336, 2023. DOI: 10.33448/rsd-v12i10.43336. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/43336. Acesso em: 23 dec. 2024.

Issue

Section

Health Sciences