Crouzon’s syndrome: Case report and literature review

Crouzon’s syndrome is one of the hereditary syndromes of craniofacial dystosis. Patients with these syndromes may be presented to multiple specialties with various presentations such as misshapen head, ocular abnormalities, oro-maxillary defects or even with obstructive sleep apnea or difficulty in breathing due to facial deformities1,2. Here, we describe a female who was diagnosed as Crouzon’s syndrome in her 5th decade with classical anatomical malformations. She is a 42 year-old unmarried female presented with blurring of vision of left eye for 3 months duration. Her past medical history revealed that she was noticed to have prominent bulging of eyes since birth. When she presented to us, she has flatten occiput with frontal prominence, abnormal contour of head (brachycephaly) and shallow orbit with bilateral pseudoproptosis. She has no hand deformities such as syndactyly or polydactyl as seen with other hereditary craniofacial dystosis syndromes.