Crouzon syndrome: clinico-radiological illustration of a case

J Clin Imaging Sci. 2012:2:70. doi: 10.4103/2156-7514.104303. Epub 2012 Nov 30.

Abstract

Crouzon syndrome, also called craniofacial dysostosis, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder characterized by premature closure of cranial sutures, midfacial hypoplasia, and orbital defects. Here, we report a case of this rare entity. The patient presented with brachycephaly, maxillary hypoplasia, exophthalmos, mandibular prognathism, along with dental and orbital abnormalities.

Keywords: Craniofacial dysostosis; copper beaten appearance; crouzon syndrome; exophthalmos.

Publication types

  • Case Reports