Article citationsMore >>

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.

has been cited by the following article:

Article

Crouzon’s Syndrome: A Case Report

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


American Journal of Medical Case Reports. 2021, Vol. 9 No. 4, 213-215
DOI: 10.12691/ajmcr-9-4-2
Copyright © 2021 Science and Education Publishing

Cite this paper:
Mohammed Al Homsi, Ammar Al Homsi, 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.

Correspondence to: Ammar  Al Homsi, RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras al Khaimah, United Arab Emirates. Email: Mohammadalhomsi84@gmail.com

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