CLINICAL AND MOLECULAR CHARACTERIZATION OF A PATIENT WITH SYNDROMIC CRANIOSYNOSTOSIS, A CASE REPORT

Introduction: Craniosynostosis is a craniofacial disorder characterized by premature fusion of one or more cranial sutures, inhibiting bone growth perpendicular to the affected suture. In syndromic craniosynostosis, anomalies of the limbs, heart and central nervous system may be present, in addition to genetic mutations affecting the cranial vault. Its etiology is associated with paternal age, teratogenic factors and external pressure on the skull; the main genes causing syndromic craniosynostosis are the growth factor receptors (FGFR1, FGFR2, and FGFR3, TWIST1 and EFNB1), for these reasons it is of utmost importance to recognize the existing types of syndromic craniosynostosis, and its clinical and molecular characteristics to reach an optimal and accurate diagnosis. Objective: to present the clinical and molecular characterization of an individual with syndromic craniosynostosis in a case. Methodology:an objective description of the clinical case and a review with analysis of a total of 24 articles, including review and original articles, as well as clinical cases, of which 18 bibliographies were used because the other articles were not relevant to this study. The sources of information were indexed journals as well as search engines such as PubMed, Google Scholar and Cochrane; the terms used to search for information were: syndrome, craniosynostosis, gene, mutation, FGFR. Results: the present report shows a clinical case of syndromic craniosynostosis. The diagnosis was made during an evaluation by means of radiographic analysis in a 15-year-old female patient, and corroborated by genetic blood tests with the following results: heterozygous variant at position 755 of the c.DNA, where a variant in Cytosine is visualized by a Guanine. This determines a change at the level of the FGFR2 protein. Conclusions: the case report describes the clinical and molecular diagnosis of a 15-year-old female patient, revealing a heterozygous genetic variant in the FGFR2 gene (c.755>G), associated with changes in the FGFR2 protein. This finding is relevant, as similar variants have not been reported in Ecuador or South America, underscoring the need for further research on syndromic craniosynostosis and Apert syndrome. A multidisciplinary approach to treatment is recommended, involving various medical specialties to ensure proper brain development and improved esthetics. In addition, the existence of similar cases in Indonesia and Congo is mentioned, suggesting a possible founder effect related to the migration of people with character. KEY WORDS: syndrome, craniosynostosis, gene, mutation, FGFR