Achondroplasia congenita from a multidimensional perspective. Case report

Abstract

Background: Achondroplasia is a disease belonging to a group of dysplasia, according to current literature known as a rare process, with permanent sequelae and the need for continuous evaluations to improve functional capacity and timely treatment of its complications. Case report: A clinical case of Achondroplasia is presented, attended by the E.S. E Hospital Departamental Universitario del Quindío, San Juan de Dios (Colombia), a male patient 11 months old of Venezuelan nationality, with poor family support network, incomplete vaccination schedule, with no family or pathological history of importance referred by the mother; He was admitted to the institution due to respiratory symptoms with subsequent evolution to ventilatory failure, acute heart failure and high risk of mortality. Given his morphological characteristics, a high probability of bone dysplasia was suspected by physical examination, which is why multidisciplinary intervention and management by pediatric endocrinology was requested, who confirmed the clinical and paraclinical diagnosis of congenital achondroplasia, without genetic confirmation. Conclusion: In the case presented, it is evident how social inequality, lack of affiliation to health care providers (EPS) and deprivation of clinical follow-up are factors that increase the probability of complications and hinder the comprehensive care of patients.