title: Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy.
abstract: Jeune syndrome (JS), or asphyxiating thoracic dystrophy, is a rare genetic disorder characterized by a small, narrow thorax, with associated shortening of limbs. Children with JS present with variable degrees of respiratory distress, frequently lethal in the neonatal period. Other associated complications include renal, hepatic, gastrointestinal, and retinal dysfunction. Management focuses on stabilization and support of respiratory function. Treatment may be palliative in nature or corrective. In recent years, the advance in surgical treatment of the thoracic hypoplasia in JS offers hope to those families with a child suffering from the syndrome. Even with increased research into treatment of this disorder, prognosis is usually poor. Comorbidities associated with JS lead to serious organ dysfunction in later years. Families who have a child with JS need genetic counseling and education focusing on the seriousness of the disorder, the risks and benefits of treatment, and the lifelong needs of those with JS.
authors.affiliation: Rady Children's Specialists of San Diego, 3020 Children’s Way, MC 5008, San Diego, CA 92123, USA. Sabrina.elisa04@gmail.com
authors.forename: Sabrina E
authors.initials: SE
authors.lastname: Poyner
authors.forename: Wanda T
authors.initials: WT
authors.lastname: Bradshaw
mesh_terms: D015897:Comorbidity; D003937:Diagnosis, Differential; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis / Q000235:genetics / Q000451:nursing* / Q000601:surgery; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009733:Nursing Diagnosis; D010166:Palliative Care; D010641:Phenotype; D011296:Prenatal Diagnosis; D011368:Professional-Family Relations; D011379:Prognosis; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics / Q000451:nursing*