Asphyxiating thoracic dystrophy or Jeune´s Síndrome

Asphyxiating thoracic dystrophy Jeune syndrome

Authors

  • Andrea Catalina Orozco
    andrea.orozcomiranda@hotmail.com
    Cardiología Pediátrica “Aldo Castañeda”, Unidad de Cirugía Cardiovascular de Guatemala, Guatemala., Guatemala
  • Mauricio O'Connell Cardiología Pediátrica “Aldo Castañeda”, Unidad de Cirugía Cardiovascular de Guatemala, Guatemala., Guatemala
  • Miriam Guzmán Departamento de Pediatría, Hospital Nacional de San Marcos, San Marcos, Guatemala., Guatemala
  • Julio Cabrera Unidad de Genética Clínica, Hospital Roosevelt, Guatemala, Guatemala., Guatemala
August 19, 2020
December 16, 2020

Asphyxiating thoracic dystrophy (ATD), also called Jeune syndrome, is an autosomal recessive genetic disorder, the cause of which is unknown in many cases. However, mutations have been identified in at least 11 different genes.[1,2] Their frequency