Crouzon Syndrome: An Unwanted Family Heirloom

Abstract

Craniosynostoses are syndromes characterized by premature fusion of sutures of the skull and Crouzon syndrome is the most common of the craniosynostosis syndromes. Early fusion of sutures causes craniofacial anomalies. Visual complications can arise-including papilledema and optic atrophy, often related to increased intracranial pressure (ICP). Strabismus, refractive errors are common. Proptosis may lead to exposure keratopathy, which requires aggressive management to avoid severe corneal complications. Amblyopia can result from optic neuropathy, corneal opacities, strabismus, or refractive errors. If undiagnosed and untreated at a young age, it results in permanent visual impairment. Here, we report craniosynostosis with phenotypical features suggestive of Crouzon syndrome in a 17 year old male patient who presented to OPD with ocular complaints and underwent a complete systemic evaluation. Upon detailed history taking, a positive family history was elicited with similar complaints in the brother, father, grandfather, aunt, and cousin of the patient. Each of the patients described here was diagnosed at different points in time and belongs to successive generations with a few different clinical features.highlighting the complete penetrance of this disorder with variable expressivity.