Jeune syndrome: Case report

• Autor(a) principal: Campos Fernandes, Regina Célia de Souza
• Data de Publicação: 2012
• Outros Autores: Perigolo, Graciele Fátima, Teixeira, Stêfani da Silva, Porto Rodrigues, Danielle Ivana Maciel, Campos Fernandes, Silvia de Souza, Campos Fernandes, Ricardo de Souza
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista Científica da Faculdade de Medicina de Campos
• Texto Completo: https://www.fmc.br/ojs/index.php/RCFMC/article/view/93
• topic: Anomalias da caixa torácica; distrofia torácica asfixiante; Síndrome de Jeune; asphyxiating thoracic dystrophy,; Jeune syndrome,; thoracic cage abnormalities

Introduction: Asphyxiating thoracic dysplasia or Jeune syndrome is a rare condition ofautosomal recessive transmission characterized by a disturbance of endochondral ossification, with reduction of thoracic cage. In severe cases it is potentially lethal, due to the rapid development of respiratory failure and infectious complications.Objective: To report a case of Jeune syndrome.Method: Revision of medical records.Case report: Female patient, 8 months of age, was admitted with dry cough, fever, dyspnea and thoracic deformity. Prolonged staying at neonatal unit by asphyxia and sepsis and previous hospitalization by wheezing. Radiological pattern of thorax and pelvis compatible with Jeune syndrome.Conclusion: This report allows discussion of clinical manifestations, diagnostic methods, monitoring and therapeutic strategies for Jeune syndrome.