A Review on Different Manifestations of Crouzon Syndrome

Abstract

Introduction: Crouzon syndrome (CS), the most common craniosynostosis condition, which could lead to several developmental complications. This study aimed to review the different manifestations of CS. Material and Methods: In order to find the relevant articles, the databases of PubMed, Scopus, Web of Science, and Cochrane Library were searched using the term “Craniofacial Dysostosis” and its relevant entry terms. All English-language articles regarding the CS were included in the study. After removing the duplicate articles, two authors independently screened the title and abstracts of the included articles. Disagreements were resolved through voting and discussion with the third author. Then full-text of articles were screened and the articles were categorized depending on regarding their main topic. Results: The search yielded 449 results in different databases. After removing the duplicates, 331 results remained. Then, 182 were excluded as not completely relevant by screening the abstracts. The remaining 149 studies were assessed for the eligibility criteria. Of them, 74 were excluded due to the following reasons: (1) unavailable full text; (2) discussing other types of craniosynostoses syndromes; and (3) not having clear results. Finally, 75 studies which were included in this study. Conclusion: CS is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the characteristic physical features, as well as imaging studies and genetic testing. Treatment involves surgery to correct the craniosynostosis and facial abnormalities. Early and appropriate treatment can help to improve the quality of life for affected individuals.

An Adult Case of Crouzon Syndrome: Diagnostic Features and Treatment Modalities

“…The most common craniosynostosis syndromes include Crouzon, Apert, Pfeiffer, Carpenter, Saethre-Chotzen, and Jackson-Weiss syndromes. Crouzon syndrome (CS), the most common craniosynostosis condition, is a rare genetic disorder with a global prevalence of 16 per million births [2]. It is an autosomal dominant condition linked to numerous fibroblast growth factor receptor 2 (FGFR2) mutations.…”