Eziopatogenesi e manifestazioni cliniche della sindrome di Crouzon: revisione della letteratura

Abstract

Objectives

The term Craniofacial dysostosis (CFD) is used to describe familiar forms of synostosis involving different sutures of the cranial base and midface. The aim of this work consists in a systematic review of literature on aetiology, etiopathogenesis, epidemiology, diagnosis, clinical, systemic, and oral manifestations and therapeutic options of Crouzon syndrome.

Materials and methods

A systematic review of literature through Medline data bank [www.ncbi.nim.nih.gov/pubmed] was done using “Craniofacial Dysostosis”, “Craniosynostosis”, and “Crouzon Syndrome” as keywords.

Results

Crouzon syndrome is the most common craniosynostosis. It develops after an early fusion of superior and posterior sutures of the maxilla with orbital ones, with consequent underdevelopment of the midface and ocular proptosis. Oral manifestations are maxillary hypoplasia, maxillary dental crowding, ogival palatus, and relative mandibular prognathism. Diagnosis can be done either through the evaluation of clinical phenotypes or DNA analysis with polymerase chain reaction (PCR). Treatment is mainly surgical. Orthodontic therapy is performed during the early skeletal maturation.

Conclusions

Thanks to the important innovations in surgical techniques and to a muldisciplinary approach, patients affected by this syndrome may aspire to normal cerebral development, physical status, and social relationships.