Crouzon syndrome is a congenital disorder characterized by premature closure (synostosis) of the coronal sutures, and less frequently of the sagittal or lambdoidal skull sutures.

This results in a dysmorphic appearance of the skull and face, with a high forehead, flattened occiput and brachycephaly. In addition to the craniosynostosis, affected children may also have abnormal fusion of the bones of the skull base and midface, resulting in maxillary hypoplasia, high arched palate and shallow orbits, causing pronounced exophthalmos [1].

Severity is variable. The combination of a reduced intracranial volume and a growing brain may result in raised intracranial pressure (ICP), optic atrophy, hearing loss, seizures, and rarely, cognitive impairment.

Extended dysostosis of the facial and cervical bones and subsequent soft tissue abnormalities may compromise the upper airway. Obstructive sleep apnea (OSA) is common in Crouzon syndrome. Spine abnormalities may also be present and can reduce cervical mobility.

Crouzon syndrome may also be associated with a patent ductus arteriosus (PDA) and aortic coarctation (AoC). Crouzon, Apert, and Pfeiffer syndrome are among the most recognizable of the syndromic craniosynostoses [2,3].

Crouzon occurs in approximately 1 in 25,000 births and is due to a mutation in the fibroblast growth factor receptor (FGFR) 2 gene on chromosome 10. It may be inherited in an autosomal dominant fashion or occur sporadically as a spontaneous mutation. It has a maletofemale ratio of 3:1.