Abstract
Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction.
The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management.
Keywords: Craniosynostosis, Anterior crossbyte, Fibroblast growth factor
Full Text
The Full Text of this article is available as a PDF (262.6 KB).
References
- 1.Fogh-Andersen P. Craniofacial dysostosis (Crouzon’s disease) as a dominant hereditary affection. Nord Med. 1943;18:993–996. [Google Scholar]
- 2.Crouzon O. Dysostose craniofaciale hereditaire. Bull Mem Soc Med Hosp Paris. 1912;33:545–555. [Google Scholar]
- 3.Fries P.D., Katowitz J.A. Congenital craniofacial anomalies of ophthalmic importance. Surv Ophthalmol. 1990;35(2):87–119. doi: 10.1016/0039-6257(90)90067-6. [DOI] [PubMed] [Google Scholar]
- 4.Cohen M.M., Jr Craniosynostosis update 1987. Am J Med Genet Suppl. 1988;4:99–148. doi: 10.1002/ajmg.1320310514. [DOI] [PubMed] [Google Scholar]
- 5.Cohen M.M., Jr, Kreiborg S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet. 1992;41(1):12–15. doi: 10.1111/j.1399-0004.1992.tb03620.x. [DOI] [PubMed] [Google Scholar]
- 6.Gray T.L., Casey T., Selva D., Anderson P.J., David D.J. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology. 2005;112(6):1129–1134. doi: 10.1016/j.ophtha.2004.12.037. [DOI] [PubMed] [Google Scholar]
- 7.Jarund M., Lauritzen C. Craniofacial dysostosis: airway obstruction and craniofacial surgery. Scand J Plast Reconstr Surg Hand Surg. 1996;30(4):275–279. doi: 10.3109/02844319609056405. [DOI] [PubMed] [Google Scholar]