APERT SYNDROME ASSOCIATED WITH PERSISTENCE OF BLAKE'S CYST: A RARE CLINICAL ASSOCIATION

Abstract

Apert syndrome is a rare genetic disorder that can also be called acrocephalosindactyly. It is genetically defined as an autosomal dominant inherited disease related to mutations of the fibroblast growth factor receptor 2 gene, FGFR2. The diagnosis of Apert syndrome is established in the clinical identification of the Apert triad associated or not with the identification by genetic mapping of the pathological heterozygote of the variant in FGFR2. The treatment plan of the syndrome, considering its presentation variables. The present study aimed to demonstrate details described in the literature on Apert syndrome, through a case report. A male patient with 8 hours of life is referred to the service of a university hospital presenting anatomical changes in the skull, lower and upper limbs and face identified as syndromic facies, macrocrania with prominent frontal, wide fontanelles and occipital flattening, universal syndactyly, bilateral clubfoot, low nasal base, shallow orbits, ogival palate. It is concluded that the clinical characteristics of the patient are in accordance with the characteristics reported in the literature for the syndrome, being diagnosed with Apert Syndrome. The treatment plan of the syndrome, considering its presentation variables, should be multidisciplinary combining the approaches of orthodontics, orthopedics, neurosurgery because this grounds the best results both aesthetically and functionally for patients with the syndrome.