Crouzon's syndrome: literature review

Abstract

Introduction: The Crouzon syndrome or craniofacial dysostosis type I is a rare disease that affects the craniofacial skeleton development. Although it is uncommon, it has a transmission risk of 50% when one of the parents is a carrier. Objective: Performing a literature review about the Crouzon Syndrome, with emphasis on the current aspects. Method: As a methodology, a search on databases on-line, such as Cochrane, LILACS, MEDLINE, OMIM and SciELO has been made, by applying for the search the key-word Crouzon's Syndrome for articles published until 2007, in addition to the literature already dedicated to the subject. Literature Review: This syndrome is characterized by craniofacial anomalies caused by the early loss of the cranium flexibility, and present since the birth with tendency to aggravation in time. The main clinic signs are craniosynostosis, hypertelorism, exophthalmia, external strabismus, "parrot-beaked nose", short upper lip, hypoplastic maxilla and a relative mandibular prognathism determining a mid-facial hypoplasia aspect. It is a hereditary affection with an autosomal dominant transmission with 100% of penetrance and large phenotypic scale. Final Considerations: The genetic advising and an individual study of each case are essential to promote the improvement of the diagnosis. An early multidisciplinary approach is necessary, with specific therapeutic program aiming at the prevention of late diagnosis effects.

Keywords

• Crouzon
• Otorhinolaryngology
• Genetics
• Crouzon's disease
• Cranium