Presentation
Excessive cry, enlarge head and bilateral proptosis.
Patient Data
Dolicocephaly (craniosynostosis).
Mid facial hypoplasia, shallow orbits with exophthalmos.
Note also the association of moderate communicating hydrocephlus without transependymal CSF seepage.
Case Discussion
Crouzon syndrome is also known as craniofacial dysostosis. The characteristics of Crouzon syndrome are craniosynostosis, mid-face hypoplasia, large forehead, shallow eye sockets, cleft palate, fused bones of arm, elbow and hips. The distinguishing feature of Crouzon syndrome from other types of syndromic craniosynostosis is the absence of hand anomalies.
The diagnosis was suggested upon the cranial features and associated abnormalities. It carries an autosomal dominant inheritance and needs genetic testing for confirmation.