Crouzon Syndrome: Diagnosis, treatment and its clinical correlations
DOI:
https://doi.org/10.33448/rsd-v12i10.43336Keywords:
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.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2023 Pedro de Alcantara Torquette D'Dalarponio; Raphael Machado Carneiro; Bruna Machado Abrão; Tereza Cristina Paredes Ayres; Rafaella Cezário Veloso; Arthur Reis Assis; Laércio Wanderley dos Santos Júnior; Mariana Bassoli Felix Dutra; Danielle Nibia Damião; Rúbia Jocken Jeronimo; João Victor Sant´Anna Santos; Alessandra Faria Duarte ; Lucas Baião Lopes Cançado
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.