Pediatr. praxi. 2023;24(3):194-196 | DOI: 10.36290/ped.2023.055
CranioFacial Synostosis - Crouzon syndrome
- Pediatrická ambulance, Mediclinic, a. s., Praha
Crouzon syndrome is a rare autosomal dominant disease due to mutation of genes encoding fibroblast growth factor receptor 2 (FGFR2). Premature closure of the cranial sutures causes a number of complications in growing children, such as increased intracranial pressure due to reduced intracranial space and growing brain tissue, epilepsy, hearing impairment, and optic nerve atrophy. The management of patients with Crouzon syndrome requires a multidisciplinary approach at specialized centers. Treatment is mainly surgical (remodulation of the skull) with very good prognosis.
Keywords: Crouzon syndrome, craniofacial synostosis.
Accepted: June 8, 2023; Published: June 15, 2023 Show citation
References
- Cohen MM Jr. Craniosynostosis update 1987. Am J Med Genet Suppl. 1988;4:99-148. doi: 10.1002/ajmg.1320310514. PMID: 3144990.
Go to original source... 
Go to PubMed... - Cohen MM Jr, Kreiborg S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet. 1992 Jan;41(1):12-5. doi: 10.1111/j.1399-0004.1992.tb03620.x. PMID: 1633640. Go to original source... Go to PubMed...
- Reardon W, Winter RM, Rutland P, et al. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 1994 Sep;8(1):98-103. doi: 10.1038/ng0994-98. PMID: 7987400. Go to original source... Go to PubMed...
- Bhattacharjee K, Rehman O, Venkatraman V, et al. Crouzon syndrome and the eye: An overview. Indian Journal of Ophthalmology. July 2022;70(7):2346-2354. doi: 10.4103/ijo.IJO_3207_21. Go to original source... Go to PubMed...
- LeCourt LP, Elston DM, Homavirak P, et al. Crouzon Syndrome. Medscape. Available from: https://emedicine.medscape.com/article/1117749-overview.