Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome.
The differential diagnosis of exophthalmos requires careful examination to identify potentially serious aetiologies. We present the case of a child with exophthalmos in whom genetic analysis identified a mutation in the fibroblast growth factor receptor 2 associated with Crouzon syndrome. The variable presentation should remind paediatricians to consider mutations in fibroblast growth factor receptor 2 among the aetiologies of exophthalmos.
Quintero-Rivera
Fabiola
F
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.
Martinez-Agosto
Julian A
JA
D003394:Craniofacial Dysostosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005094:Exophthalmos / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
D051497:Receptor, Fibroblast Growth Factor, Type 2