Crouzon Syndrome: Clinico-Radiological Illustration of a Case

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.

Crouzon Syndrome: Visual Diagnosis

“…Half of the cases are sporadic, and the other half are autosomal dominant with complete penetrance and variable expression (Mohan, Vemanna, Verma, & Agarwal, 2012). Crouzon syndrome is associated with a mutation in the fibroblast growth factor receptor 2 gene (FGFR2) located on chromosome 10 (Maloth et al, 2012).…”

Computed tomography findings of Crouzon syndrome: A case report

“…This rise in the intracranial pressure led to moderate hydrocephalus and diffuse indentation of the inner table of the skull documented by CT. The indentation of the internal table of the skull represents the well-known “copper beaten skull sign” but detected in CT [16] .…”

“…Therefore, identifying Crouzon syndrome, among others syndromic craniosynostosis, can result in a diagnostic challenge. The lack of hands and foot anomalies is crucial to distinguish Crouzon syndrome from other craniosynostoses such as Apert syndrome, Pfeiffer syndrome, Saethe-Chotzen syndrome, and Muenke syndrome [16] . This patient did not have hands or feet abnormalities, which aligns with the clinical presentation of Crouzon syndrome described in the literature [16] .…”

Hypercementosis development in a patient with Crouzon syndrome

“…1,2 Characteristics of patients with Crouzon syndrome, which was first described by French neurologist, Octave Crouzon in 1912, include features such as skull deformities, facial anomalies, and exophthalmos. 3,4 Imaging has been found to be beneficial in the early diagnosis of Crouzon syndrome. 5 Hypercementosis, the excessive formation of cementum above what is deemed normal, has been documented in a case of Crouzon syndrome in a 35-yearold female.…”