American Journal of Medical Case Reports. 2021, 9(4), 213-215
DOI: 10.12691/AJMCR-9-4-2
Crouzon’s Syndrome: A Case Report
Mohammed Al Homsi1, Ammar Al Homsi1, and Malay Jhancy2
1RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates
2Pediatrics, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates
Pub. Date: January 19, 2021
Cite this paper
Mohammed Al Homsi, Ammar Al Homsi and Malay Jhancy. Crouzon’s Syndrome: A Case Report.
American Journal of Medical Case Reports. 2021; 9(4):213-215. doi: 10.12691/AJMCR-9-4-2
Abstract
Crouzon’s syndrome is a rare autosomal dominant disorder characterized by craniofacial malformations. It’s the most common syndrome among the craniosynostosis group accounting for about 4.8 % of all of them. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene resulting in premature closure of suture lines. Our article describes a case report of a 3 years old girl who displayed characteristic dysmorphic skull and facial features of Crouzon’s syndrome.
Keywords
Crouzon’s syndrome, craniosynostosis, maxillary hypoplasia
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References
[1] | Gray TL, Casey T, Selva D, Anderson PJ, David DJ. (2005) Ophthalmic sequelae of Crouzon syndrome. Ophthalmology. 112: 1129-34. |
|
[2] | Gorlins text book of Syndrome of Head And Neck 4th edition. |
|
[3] | Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV, et al. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes. Am J Med Genet A 2010; 152A: 2067-73. |
|
[4] | Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth receptor 2 gene cause Crouzon syndrome. Nat Genet 1994; 8: 98-103. |
|
[5] | David Lisa R, Velotta Emily, Weaver R Grey, Wilson John A, Argenta Louis C. (2002). Clinical findings precede objective diagnostic testing in the identification of increased intracranial pressure in syndromic craniosynostosis. J Craniofac Surg 13: 676-80. |
|
[6] | Da Silva DL, Palheta Neto FX, Carneiro SG, Palheta ACP, Monteiro M, Cunha SC, et al. Crouzon's Syndrome: Literature Review. Intl Arch Otorhinolaryngol 2008; 12: 436-41 |
|
[7] | Chen CP, Lin SP, Su YN, Huang JK, Wang W. A cloverleaf skull associated with Crouzon syndrome. Arch Dis Child Fetal Neonatal Ed 2006; 91: F98. |
|
[8] | Bowling EL, Burstein FD (2006) Crouzon syndrome. Optometry 77: 217-22. |
|
[9] | Martinez‑Perez D, Vander Woude DL, Barnes PD, Scott RM, Mulliken JB. Jugular foraminal stenosis in Crouzon Syndrome. Pediatr Neurosurg 1996; 25: 252-5. |
|
[10] | Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. 4th ed. Oxford: Oxford University Press; 2001. p. 658-9. |
|
[11] | Padmanabham V, Hegde AM, Rai K. Crouzon’s syndrome: A review of literature and case report. Contemp Clin Dent 2011; 2: 211-4. |
|
[12] | Kaur H, Waraich HS, Sharma CM. (2006). Crouzon syndrome: A case report and review of literature. Indian J Otolaryngology Head Neck Surg. 58: 381-82. |
|
[13] | Hlongwa P. Early orthodontic management of Crouzon syndrome: A case report. J Maxillofac Oral Surg 2009; 8: 74-6. |
|