Escobar Syndrome About a case

Abstract

Introduction: Escobar syndrome or non-lethal multiple pterygiums is a rare entity with an autosomal recessive inheritance pattern. Its etiology is unknown, but clinically it is characterized by multiple pterygiums, muscular contractures, and skeletal alterations. The earliest descriptions were made early in the XX century by Bussiere and Frawley, but it was Victor Escobar in 1978 who studied it and described it more broadly. Objectives: Describe clinical and diagnostic characteristics of Escobar syndrome. Methodology: In the present study, a case is described, which has clinical features with osteomuscular alterations that partially limit its quality of life no pulmonary currently complicationes. She engages in karyotype research and corrective hip and foot surgeries. Results: In the present clinical case, its main alterations are scoliosis, multiple pterygiums, camptodactyly, hip dysplasia and bilateral equine-valgus foot, which partially limits their quality of life. The patient does not present pulmonary restriction, despite being the most frequent complication, an indicator of a good prognosis. Our case is undergoing karyotype investigation and corrective hip and foot surgeries. Conclusions: It is a genetic disease with autosomal recessive inheritance mechanism whose pathophysiology is still unknown. The diagnosis is confirmed by means of genetic tests that show the mutation of the CHRNG den, however, its absence does not rule out Escobar Syndrome. General study area: Medicine. Specific area of ​​study: Pediatrics. Article type: Clinical case.